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dbVar

Database of genomic structural variation

nsv5929983

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:234

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: 130 SVs from 19 studies. See in: genome view

Submitted genomic66,672,598-66,672,831

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5929983	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	66,672,598	66,672,831
nsv5929983	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	64,668,716	64,668,949

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17388740	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17388740	Submitted genomic		NC_000017.11:g.666 72598_66672831del	GRCh38 (hg38)		NC_000017.11	Chr17	66,672,598	66,672,831
nssv17388740	Remapped	Perfect	NC_000017.10:g.646 68716_64668949del	GRCh37.p13	First Pass	NC_000017.10	Chr17	64,668,716	64,668,949

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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