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dbVar

Database of genomic structural variation

nsv5931249

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:76

Publication(s):Almarri et al. 2020

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: 66 SVs from 18 studies. See in: genome view

Submitted genomic22,970,807-22,970,882

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5931249	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	22,970,807	22,970,882
nsv5931249	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	23,440,016	23,440,091

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17386577	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17386577	Submitted genomic		NC_000014.9:g.2297 0807_22970882del	GRCh38 (hg38)		NC_000014.9	Chr14	22,970,807	22,970,882
nssv17386577	Remapped	Perfect	NC_000014.8:g.2344 0016_23440091del	GRCh37.p13	First Pass	NC_000014.8	Chr14	23,440,016	23,440,091

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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