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dbVar

Database of genomic structural variation

nsv5588248

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:70

Publication(s):Ebert et al. 2021

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: 255 SVs from 33 studies. See in: genome view

Submitted genomic36,257,656-36,257,725

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5588248	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	36,257,656	36,257,725
nsv5588248	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	37,629,954	37,630,023

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17118564	deletion	HG00512	Sequencing	Sequence alignment	6,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17118564	Submitted genomic		NC_000021.9:g.3625 7656_36257725delA	GRCh38 (hg38)		NC_000021.9	Chr21	36,257,656	36,257,725
nssv17118564	Remapped	Perfect	NC_000021.8:g.3762 9954_37630023delA	GRCh37.p13	First Pass	NC_000021.8	Chr21	37,629,954	37,630,023

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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