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dbVar

Database of genomic structural variation

nsv6621952

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:83,271

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: 820 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):63,733,067-63,816,337

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6621952	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	63,733,067	63,816,337
nsv6621952	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	64,307,200	64,390,470

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18299671	deletion	OSC5269	SNP array	Probe signal intensity	6
nssv18300807	duplication	OSC5440	SNP array	Probe signal intensity	nssv18300462, nssv18300461, nssv18300460
nssv18301016	deletion	OSC5595	SNP array	Probe signal intensity	nssv18301015, nssv18300664, nssv18301341
nssv18301406	deletion	OSC5640	SNP array	Probe signal intensity	6
nssv18314667	deletion	OSC0824	SNP array	Probe signal intensity	7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18299671	Remapped	Perfect	NC_000013.11:g.(?_ 63733067)_(6381633 7_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	63,733,067	63,816,337
nssv18300807	Remapped	Perfect	NC_000013.11:g.(?_ 63733067)_(6381633 7_?)dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	63,733,067	63,816,337
nssv18301016	Remapped	Perfect	NC_000013.11:g.(?_ 63733067)_(6381633 7_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	63,733,067	63,816,337
nssv18301406	Remapped	Perfect	NC_000013.11:g.(?_ 63733067)_(6381633 7_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	63,733,067	63,816,337
nssv18314667	Remapped	Perfect	NC_000013.11:g.(?_ 63733067)_(6381633 7_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	63,733,067	63,816,337
nssv18299671	Submitted genomic		NC_000013.10:g.(?_ 64307200)_(6439047 0_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	64,307,200	64,390,470
nssv18300807	Submitted genomic		NC_000013.10:g.(?_ 64307200)_(6439047 0_?)dup	GRCh37 (hg19)		NC_000013.10	Chr13	64,307,200	64,390,470
nssv18301016	Submitted genomic		NC_000013.10:g.(?_ 64307200)_(6439047 0_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	64,307,200	64,390,470
nssv18301406	Submitted genomic		NC_000013.10:g.(?_ 64307200)_(6439047 0_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	64,307,200	64,390,470
nssv18314667	Submitted genomic		NC_000013.10:g.(?_ 64307200)_(6439047 0_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	64,307,200	64,390,470

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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