Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5936848

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:329

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: 145 SVs from 27 studies. See in: genome view

Submitted genomic75,113,037-75,113,365

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5936848	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	75,113,037	75,113,365
nsv5936848	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	73,109,132	73,109,460

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17383513	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17383513	Submitted genomic		NC_000017.11:g.751 13037_75113365del	GRCh38 (hg38)		NC_000017.11	Chr17	75,113,037	75,113,365
nssv17383513	Remapped	Perfect	NC_000017.10:g.731 09132_73109460del	GRCh37.p13	First Pass	NC_000017.10	Chr17	73,109,132	73,109,460

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.

You are here: NCBI