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dbVar

Database of genomic structural variation

nsv4370279

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:54,241

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: 862 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):42,522,345-42,576,585

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4370279	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	42,522,345	42,576,585
nsv4370279	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	42,918,351	42,972,591

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15686504	copy number gain	OCD15-B_JN-1467	SNP array	Genotyping	24
nssv15695656	copy number gain	OCD91-0625-7618-3	SNP array	Genotyping	19

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15686504	Remapped	Perfect	NC_000022.11:g.(?_ 42522345)_(4257658 5_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,345	42,576,585
nssv15695656	Remapped	Perfect	NC_000022.11:g.(?_ 42522345)_(4257658 5_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,345	42,576,585
nssv15686504	Submitted genomic		NC_000022.10:g.(?_ 42918351)_(4297259 1_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,351	42,972,591
nssv15695656	Submitted genomic		NC_000022.10:g.(?_ 42918351)_(4297259 1_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,351	42,972,591

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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