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dbVar

Database of genomic structural variation

nsv5924366

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:299

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: 128 SVs from 40 studies. See in: genome view

Submitted genomic55,952,451-55,952,749

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5924366	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	55,952,451	55,952,749
nsv5924366	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	56,020,144	56,020,442

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17439557	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17439557	Submitted genomic		NC_000007.14:g.559 52451_55952749del	GRCh38 (hg38)		NC_000007.14	Chr7	55,952,451	55,952,749
nssv17439557	Remapped	Perfect	NC_000007.13:g.560 20144_56020442del	GRCh37.p13	First Pass	NC_000007.13	Chr7	56,020,144	56,020,442

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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