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dbVar

Database of genomic structural variation

nsv6626736

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:668,019

Publication(s):Zarrei et al. 2023

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: 2298 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):13,223,421-13,891,439

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6626736	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	13,223,421	13,891,439
nsv6626736	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	14,595,742	15,263,760

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18314902	deletion	OSC8021	SNP array	Probe signal intensity	16
nssv18317972	duplication	OSC8391	SNP array	Probe signal intensity	7
nssv18318853	deletion	OSC8804	SNP array	Probe signal intensity	11

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18314902	Remapped	Perfect	NC_000021.9:g.(?_1 3223421)_(13891439 _?)del	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,223,421	13,891,439
nssv18317972	Remapped	Perfect	NC_000021.9:g.(?_1 3223421)_(13891439 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,223,421	13,891,439
nssv18318853	Remapped	Perfect	NC_000021.9:g.(?_1 3223421)_(13891439 _?)del	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,223,421	13,891,439
nssv18314902	Submitted genomic		NC_000021.8:g.(?_1 4595742)_(15263760 _?)del	GRCh37 (hg19)		NC_000021.8	Chr21	14,595,742	15,263,760
nssv18317972	Submitted genomic		NC_000021.8:g.(?_1 4595742)_(15263760 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	14,595,742	15,263,760
nssv18318853	Submitted genomic		NC_000021.8:g.(?_1 4595742)_(15263760 _?)del	GRCh37 (hg19)		NC_000021.8	Chr21	14,595,742	15,263,760

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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