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dbVar

Database of genomic structural variation

nsv4368600

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:37,513

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: 328 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):27,496,294-27,533,806

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4368600	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	27,496,294	27,533,806
nsv4368600	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	28,868,613	28,906,125

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15617624	copy number loss	1-0834-003	SNP array	Genotyping	21
nssv15617646	copy number loss	1-0834-004	SNP array	Genotyping	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15617624	Remapped	Perfect	NC_000021.9:g.(?_2 7496294)_(27533806 _?)del	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,496,294	27,533,806
nssv15617646	Remapped	Perfect	NC_000021.9:g.(?_2 7496294)_(27533806 _?)del	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,496,294	27,533,806
nssv15617624	Submitted genomic		NC_000021.8:g.(?_2 8868613)_(28906125 _?)del	GRCh37 (hg19)		NC_000021.8	Chr21	28,868,613	28,906,125
nssv15617646	Submitted genomic		NC_000021.8:g.(?_2 8868613)_(28906125 _?)del	GRCh37 (hg19)		NC_000021.8	Chr21	28,868,613	28,906,125

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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