nsv443006

Organism: Homo sapiens

Study:nstd23 (Young et al. 2008)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:38
Validation:Yes
Clinical Assertions: No
Region Size:2

Description:851-bp deletion (b36.1) near end of OR. SNP on same haplotype also creates premature stop (dbSNP: rs4268525)
Publication(s):Young et al. 2008

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 208 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):124,121,285-124,121,286

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv443006	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nsv443006	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	123,626,495	123,626,496

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1671996	deletion	GM17034	Sequencing	Sequence alignment	0	nssv1671906, nssv1671995, nssv1672049
nssv1671997	deletion	GM17039	Sequencing	Sequence alignment	0	5
nssv1671998	deletion	GM17031	Sequencing	Sequence alignment	0	nssv1671929, nssv1672032
nssv1671999	deletion	GM00946	Sequencing	Sequence alignment	0	nssv1671904, nssv1671925, nssv1672048
nssv1672000	deletion	GM10979	Sequencing	Sequence alignment	0	nssv1671934, nssv1671983, nssv1672042
nssv1672001	deletion	GM17036	Sequencing	Sequence alignment	0	6
nssv1672002	deletion	GM01805	Sequencing	Sequence alignment	0	nssv1671915, nssv1671971, nssv1672056
nssv1672003	deletion	GM11375	Sequencing	Sequence alignment	0	nssv1671946, nssv1672041
nssv1672004	deletion	GM10493	Sequencing	Sequence alignment	1	nssv1671953, nssv1671986
nssv1672005	deletion	GM10494	Sequencing	Sequence alignment	1	nssv1671993
nssv1672006	deletion	GM10471	Sequencing	Sequence alignment	1	5
nssv1672007	deletion	GM10473	Sequencing	Sequence alignment	1	nssv1671966, nssv1671985
nssv1672008	deletion	GM10492	Sequencing	Sequence alignment	1	nssv1671907
nssv1672009	deletion	GM17038	Sequencing	Sequence alignment	1	nssv1672044
nssv1672010	deletion	GM17040	Sequencing	Sequence alignment	1	6
nssv1672011	deletion	GM17032	Sequencing	Sequence alignment	1	nssv1671936, nssv1672040
nssv1672012	deletion	GM17033	Sequencing	Sequence alignment	1	nssv1671919, nssv1671937, nssv1671967
nssv1672013	deletion	GM17035	Sequencing	Sequence alignment	1	5
nssv1672014	deletion	GM00893	Sequencing	Sequence alignment	1	nssv1671943
nssv1672015	deletion	GM01814	Sequencing	Sequence alignment	1	nssv1671908, nssv1671975
nssv1672016	deletion	GM08428	Sequencing	Sequence alignment	1
nssv1672017	deletion	GM01310	Sequencing	Sequence alignment	1
nssv1672018	deletion	GM10534	Sequencing	Sequence alignment	1	nssv1671974
nssv1672019	deletion	GM09948	Sequencing	Sequence alignment	1	nssv1671926, nssv1671970, nssv1671987
nssv1672020	deletion	GM11522	Sequencing	Sequence alignment	1	nssv1671972
nssv1672021	deletion	GM11521	Sequencing	Sequence alignment	1	nssv1671988
nssv1672022	deletion	GM11523	Sequencing	Sequence alignment	1	nssv1671973, nssv1672050
nssv1672023	deletion	GM01953	Sequencing	Sequence alignment	1	nssv1671922, nssv1671941
nssv1672024	deletion	GM11524	Sequencing	Sequence alignment	1	nssv1671914, nssv1671976
nssv1672025	deletion	GM11525	Sequencing	Sequence alignment	1	nssv1671917, nssv1671940
nssv1672026	deletion	GM11376	Sequencing	Sequence alignment	1	nssv1671912
nssv1672027	deletion	GM14492	Sequencing	Sequence alignment	1	nssv1671911, nssv1671989, nssv1672052
nssv1672028	deletion	GM11377	Sequencing	Sequence alignment	1	nssv1671984, nssv1672037
nssv1672029	deletion	GM11373	Sequencing	Sequence alignment	1	6
nssv1672030	deletion	GM10539	Sequencing	Sequence alignment	1	nssv1671982
nssv1672031	deletion	GM10542	Sequencing	Sequence alignment	1	nssv1671916, nssv1671979, nssv1672055
nssv1672033	deletion	GM10543	Sequencing	Sequence alignment	1	nssv1671918, nssv1671962, nssv1672053
nssv1672034	deletion	GM10976	Sequencing	Sequence alignment	1	5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv1671996	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1671997	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1671998	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1671999	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672000	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672001	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672002	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672003	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672004	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672005	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672006	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672007	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672008	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672009	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672010	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672011	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672012	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672013	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672014	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672015	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672016	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672017	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672018	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672019	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672020	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672021	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672022	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672023	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672024	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672025	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672026	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672027	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672028	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672029	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672030	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672031	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672033	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1672034	Remapped	Perfect	NC_000011.9:g.1241 21285_124121286del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,121,285	124,121,286
nssv1671996	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1671997	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1671998	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1671999	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672000	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672001	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672002	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672003	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672004	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672005	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672006	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672007	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672008	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672009	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672010	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672011	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672012	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672013	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672014	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672015	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672016	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672017	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672018	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672019	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672020	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672021	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672022	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672023	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672024	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672025	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672026	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672027	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672028	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672029	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672030	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672031	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672033	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496
nssv1672034	Submitted genomic		NC_000011.8:g.1236 26495_123626496del	NCBI36 (hg18)		NC_000011.8	Chr11	123,626,495	123,626,496

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv1672014	5	GM00893	PCR	Manual observation	Pass
nssv1671999	5	GM00946	PCR	Manual observation	Pass
nssv1672017	5	GM01310	PCR	Manual observation	Pass
nssv1672002	5	GM01805	PCR	Manual observation	Pass
nssv1672015	5	GM01814	PCR	Manual observation	Pass
nssv1672023	5	GM01953	PCR	Manual observation	Pass
nssv1672016	5	GM08428	PCR	Manual observation	Pass
nssv1672019	5	GM09948	PCR	Manual observation	Pass
nssv1672006	5	GM10471	PCR	Manual observation	Pass
nssv1672007	5	GM10473	PCR	Manual observation	Pass
nssv1672008	5	GM10492	PCR	Manual observation	Pass
nssv1672004	5	GM10493	PCR	Manual observation	Pass
nssv1672005	5	GM10494	PCR	Manual observation	Pass
nssv1672018	5	GM10534	PCR	Manual observation	Pass
nssv1672030	5	GM10539	PCR	Manual observation	Pass
nssv1672031	5	GM10542	PCR	Manual observation	Pass
nssv1672033	5	GM10543	PCR	Manual observation	Pass
nssv1672034	5	GM10976	PCR	Manual observation	Pass
nssv1672000	5	GM10979	PCR	Manual observation	Pass
nssv1672029	5	GM11373	PCR	Manual observation	Pass
nssv1672003	5	GM11375	PCR	Manual observation	Pass
nssv1672026	5	GM11376	PCR	Manual observation	Pass
nssv1672028	5	GM11377	PCR	Manual observation	Pass
nssv1672021	5	GM11521	PCR	Manual observation	Pass
nssv1672020	5	GM11522	PCR	Manual observation	Pass
nssv1672022	5	GM11523	PCR	Manual observation	Pass
nssv1672024	5	GM11524	PCR	Manual observation	Pass
nssv1672025	5	GM11525	PCR	Manual observation	Pass
nssv1672027	5	GM14492	PCR	Manual observation	Pass
nssv1671998	5	GM17031	PCR	Manual observation	Pass
nssv1672011	5	GM17032	PCR	Manual observation	Pass
nssv1672012	5	GM17033	PCR	Manual observation	Pass
nssv1671996	5	GM17034	PCR	Manual observation	Pass
nssv1672013	5	GM17035	PCR	Manual observation	Pass
nssv1672001	5	GM17036	PCR	Manual observation	Pass
nssv1672009	5	GM17038	PCR	Manual observation	Pass
nssv1671997	5	GM17039	PCR	Manual observation	Pass
nssv1672010	5	GM17040	PCR	Manual observation	Pass

dbVar

Database of genomic structural variation

nsv443006

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

Validation Information

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant