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dbVar

Database of genomic structural variation

nsv508690

Organism: Homo sapiens

Study:nstd49 (Teague et al. 2010)
Variant Type:copy number variation
Method Type:Optical mapping
Submitted on:NCBI35 (hg17)

Variant Calls:4
Validation:Yes
Clinical Assertions: Yes
Region Size:92,694

Publication(s):Teague et al. 2010

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: 484 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):207,504,396-207,597,089

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv508690	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	207,504,396	207,597,089
nsv508690	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	207,677,741	207,770,434
nsv508690	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	204,066,136	204,158,829

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Other Calls in this Sample and Study
nssv617393	deletion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv618998	deletion	GM10860	Optical mapping	Optical mapping				1,998
nssv620146	deletion	GM15510	Optical mapping	Optical mapping				1,740
nssv622786	deletion	GM18994	Optical mapping	Optical mapping				1,936

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv617393	Remapped	Perfect	NC_000001.11:g.(20 7504396_?)_(?_2075 97089)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	207,504,396	207,597,089
nssv618998	Remapped	Perfect	NC_000001.11:g.(20 7504396_?)_(?_2075 97089)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	207,504,396	207,597,089
nssv620146	Remapped	Perfect	NC_000001.11:g.(20 7504396_?)_(?_2075 97089)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	207,504,396	207,597,089
nssv622786	Remapped	Perfect	NC_000001.11:g.(20 7504396_?)_(?_2075 97089)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	207,504,396	207,597,089
nssv617393	Remapped	Perfect	NC_000001.10:g.(20 7677741_?)_(?_2077 70434)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	207,677,741	207,770,434
nssv618998	Remapped	Perfect	NC_000001.10:g.(20 7677741_?)_(?_2077 70434)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	207,677,741	207,770,434
nssv620146	Remapped	Perfect	NC_000001.10:g.(20 7677741_?)_(?_2077 70434)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	207,677,741	207,770,434
nssv622786	Remapped	Perfect	NC_000001.10:g.(20 7677741_?)_(?_2077 70434)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	207,677,741	207,770,434
nssv617393	Submitted genomic		NC_000001.8:g.(204 066136_?)_(?_20415 8829)del19069	NCBI35 (hg17)		NC_000001.8	Chr1	204,066,136	204,158,829
nssv618998	Submitted genomic		NC_000001.8:g.(204 066136_?)_(?_20415 8829)del9585	NCBI35 (hg17)		NC_000001.8	Chr1	204,066,136	204,158,829
nssv620146	Submitted genomic		NC_000001.8:g.(204 066136_?)_(?_20415 8829)del20047	NCBI35 (hg17)		NC_000001.8	Chr1	204,066,136	204,158,829
nssv622786	Submitted genomic		NC_000001.8:g.(204 066136_?)_(?_20415 8829)del20253	NCBI35 (hg17)		NC_000001.8	Chr1	204,066,136	204,158,829

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv620146	2	GM15510	Sequencing	Paired-end mapping	Pass

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
nssv617393	CHM	NCBI35: NC_000001.8:g.(204066136_?)_(?_204158829)del19069	deletion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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