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dbVar

Database of genomic structural variation

nsv471426

Organism: Homo sapiens

Study:nstd31 (Alkan et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:54,662

Description:CR1
Publication(s):Alkan et al. 2009

Links to Other Resources

Overlapping Genes

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: 384 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):207,523,601-207,578,262

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471426	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	207,523,601	207,578,262
nsv471426	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	207,696,946	207,751,607
nsv471426	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	204,085,341	204,140,002

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548256	copy number gain	JDW	Sequencing	Read depth	5	198
nssv548267	copy number gain	NA18507	Sequencing	Read depth	4	208
nssv548278	copy number gain	YH	Sequencing	Read depth	4	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548256	Remapped	Perfect	NC_000001.11:g.(20 7523601_?)_(?_2075 78262)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	207,523,601	207,578,262
nssv548267	Remapped	Perfect	NC_000001.11:g.(20 7523601_?)_(?_2075 78262)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	207,523,601	207,578,262
nssv548278	Remapped	Perfect	NC_000001.11:g.(20 7523601_?)_(?_2075 78262)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	207,523,601	207,578,262
nssv548256	Remapped	Perfect	NC_000001.10:g.(20 7696946_?)_(?_2077 51607)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	207,696,946	207,751,607
nssv548267	Remapped	Perfect	NC_000001.10:g.(20 7696946_?)_(?_2077 51607)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	207,696,946	207,751,607
nssv548278	Remapped	Perfect	NC_000001.10:g.(20 7696946_?)_(?_2077 51607)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	207,696,946	207,751,607
nssv548256	Submitted genomic		NC_000001.8:g.(204 085341_?)_(?_20414 0002)dup	NCBI35 (hg17)		NC_000001.8	Chr1	204,085,341	204,140,002
nssv548267	Submitted genomic		NC_000001.8:g.(204 085341_?)_(?_20414 0002)dup	NCBI35 (hg17)		NC_000001.8	Chr1	204,085,341	204,140,002
nssv548278	Submitted genomic		NC_000001.8:g.(204 085341_?)_(?_20414 0002)dup	NCBI35 (hg17)		NC_000001.8	Chr1	204,085,341	204,140,002

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548256	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548267	3	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv548278	3	YH	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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