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dbVar

Database of genomic structural variation

nsv5941229

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:10,870

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

Submitted genomic82,571,868-82,582,737

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5941229	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	82,571,868	82,582,737
nsv5941229	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	80,529,744	80,540,613

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17387092	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17387092	Submitted genomic		NC_000017.11:g.825 71868_82582737del	GRCh38 (hg38)		NC_000017.11	Chr17	82,571,868	82,582,737
nssv17387092	Remapped	Perfect	NC_000017.10:g.805 29744_80540613del	GRCh37.p13	First Pass	NC_000017.10	Chr17	80,529,744	80,540,613

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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