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dbVar

Database of genomic structural variation

nsv4365658

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:40,445

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: 414 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):38,742,205-38,782,649

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4365658	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	38,742,205	38,782,649
nsv4365658	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	40,114,129	40,154,573

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15636862	copy number gain	13-0161-004	SNP array	Genotyping	14
nssv15690821	copy number gain	OCD17-S_896321	SNP array	Genotyping	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15636862	Remapped	Perfect	NC_000021.9:g.(?_3 8742205)_(38782649 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	38,742,205	38,782,649
nssv15690821	Remapped	Perfect	NC_000021.9:g.(?_3 8742205)_(38782649 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	38,742,205	38,782,649
nssv15636862	Submitted genomic		NC_000021.8:g.(?_4 0114129)_(40154573 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	40,114,129	40,154,573
nssv15690821	Submitted genomic		NC_000021.8:g.(?_4 0114129)_(40154573 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	40,114,129	40,154,573

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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