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dbVar

Database of genomic structural variation

nsv470507

Organism: Homo sapiens

Study:nstd30 (Jakobsson et al. 2008)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:161,046

Description:Single-copy duplication
Publication(s):Jakobsson 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: 631 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):193,879,873-194,040,918

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv470507	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	193,879,873	194,040,918
nsv470507	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	194,744,597	194,905,642
nsv470507	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	194,452,842	194,613,887

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv547280	copy number gain	HGDP01363	SNP array	SNP genotyping analysis	3	10
nssv547281	copy number gain	HGDP01226	SNP array	SNP genotyping analysis	3	9

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv547280	Remapped	Perfect	NC_000002.12:g.(?_ 193879873)_(194040 918_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,879,873	194,040,918
nssv547281	Remapped	Perfect	NC_000002.12:g.(?_ 193879873)_(194040 918_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,879,873	194,040,918
nssv547280	Remapped	Perfect	NC_000002.11:g.(?_ 194744597)_(194905 642_?)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	194,744,597	194,905,642
nssv547281	Remapped	Perfect	NC_000002.11:g.(?_ 194744597)_(194905 642_?)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	194,744,597	194,905,642
nssv547280	Submitted genomic		NC_000002.10:g.(?_ 194452842)_(194613 887_?)dup	NCBI36 (hg18)		NC_000002.10	Chr2	194,452,842	194,613,887
nssv547281	Submitted genomic		NC_000002.10:g.(?_ 194452842)_(194613 887_?)dup	NCBI36 (hg18)		NC_000002.10	Chr2	194,452,842	194,613,887

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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