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dbVar

Database of genomic structural variation

nsv3317205

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:183,920

Publication(s):Frenkel et al. 2019

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: 962 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):167,887,449-168,071,368

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317205	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	167,887,449	168,071,368
nsv3317205	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	168,808,600	168,992,519

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468497	copy number loss	M2159	SNP array	SNP genotyping analysis	9
nssv14468514	copy number loss	M2160	SNP array	SNP genotyping analysis	22
nssv14469317	copy number loss	M2224	SNP array	SNP genotyping analysis	16

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468497	Remapped	Perfect	NC_000004.12:g.(?_ 167887449)_(168071 368_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	167,887,449	168,071,368
nssv14468514	Remapped	Perfect	NC_000004.12:g.(?_ 167887449)_(168071 368_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	167,887,449	168,071,368
nssv14469317	Remapped	Perfect	NC_000004.12:g.(?_ 167887449)_(168071 368_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	167,887,449	168,071,368
nssv14468497	Submitted genomic		NC_000004.11:g.(?_ 168808600)_(168992 519_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	168,808,600	168,992,519
nssv14468514	Submitted genomic		NC_000004.11:g.(?_ 168808600)_(168992 519_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	168,808,600	168,992,519
nssv14469317	Submitted genomic		NC_000004.11:g.(?_ 168808600)_(168992 519_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	168,808,600	168,992,519

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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