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dbVar

Database of genomic structural variation

nsv4372078

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:118,354

Publication(s):Zarrei 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: 1897 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):68,501,768-68,620,121

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4372078	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	68,501,768	68,620,121
nsv4372078	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	69,367,486	69,485,839

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15688650	copy number loss	OCD36-S_0625-0144-2	SNP array	Genotyping	22
nssv15693501	copy number loss	OCD71-896302	SNP array	Genotyping	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15688650	Remapped	Perfect	NC_000004.12:g.(?_ 68501768)_(6862012 1_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,501,768	68,620,121
nssv15693501	Remapped	Perfect	NC_000004.12:g.(?_ 68501768)_(6862012 1_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,501,768	68,620,121
nssv15688650	Submitted genomic		NC_000004.11:g.(?_ 69367486)_(6948583 9_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,367,486	69,485,839
nssv15693501	Submitted genomic		NC_000004.11:g.(?_ 69367486)_(6948583 9_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,367,486	69,485,839

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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