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dbVar

Database of genomic structural variation

nsv899270

Organism: Homo sapiens

Study:nstd71 (Xu et al. 2011)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:150,887

Publication(s):Xu et al. 2011

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: 439 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):73,050,729-73,201,615

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv899270	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	73,050,729	73,054,934	73,179,632	73,201,615
nsv899270	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	73,444,509	73,448,714	73,573,412	73,595,395
nsv899270	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000012.10	Chr12	71,730,776	71,734,981	71,859,679	71,881,662

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv1577431	copy number loss	IS34440	SNP array	SNP genotyping analysis	34
nssv1582556	copy number loss	IS35993	SNP array	SNP genotyping analysis	30
nssv1596496	copy number gain	IS40538	SNP array	SNP genotyping analysis	19

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv1577431	Remapped	Perfect	NC_000012.12:g.(73 050729_73054934)_( 73179632_73201615) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	73,050,729	73,054,934	73,179,632	73,201,615
nssv1582556	Remapped	Perfect	NC_000012.12:g.(73 050729_73054934)_( 73179632_73201615) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	73,050,729	73,054,934	73,179,632	73,201,615
nssv1596496	Remapped	Perfect	NC_000012.12:g.(73 050729_73054934)_( 73179632_73201615) dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	73,050,729	73,054,934	73,179,632	73,201,615
nssv1577431	Remapped	Perfect	NC_000012.11:g.(73 444509_73448714)_( 73573412_73595395) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	73,444,509	73,448,714	73,573,412	73,595,395
nssv1582556	Remapped	Perfect	NC_000012.11:g.(73 444509_73448714)_( 73573412_73595395) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	73,444,509	73,448,714	73,573,412	73,595,395
nssv1596496	Remapped	Perfect	NC_000012.11:g.(73 444509_73448714)_( 73573412_73595395) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	73,444,509	73,448,714	73,573,412	73,595,395
nssv1577431	Submitted genomic		NC_000012.10:g.(71 730776_71734981)_( 71859679_71881662) del	NCBI36 (hg18)		NC_000012.10	Chr12	71,730,776	71,734,981	71,859,679	71,881,662
nssv1582556	Submitted genomic		NC_000012.10:g.(71 730776_71734981)_( 71859679_71881662) del	NCBI36 (hg18)		NC_000012.10	Chr12	71,730,776	71,734,981	71,859,679	71,881,662
nssv1596496	Submitted genomic		NC_000012.10:g.(71 730776_71734981)_( 71859679_71881662) dup	NCBI36 (hg18)		NC_000012.10	Chr12	71,730,776	71,734,981	71,859,679	71,881,662

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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