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

dbVar

Database of genomic structural variation

nsv5943996

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:274,438

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: 1563 SVs from 86 studies. See in: genome view

Submitted genomic8,721,874-8,996,311

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5943996	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	8,721,874	8,996,311
nsv5943996	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	8,815,731	9,090,168

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17380572	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17380572	Submitted genomic		NC_000016.10:g.872 1874_8996311dup	GRCh38 (hg38)		NC_000016.10	Chr16	8,721,874	8,996,311
nssv17380572	Remapped	Perfect	NC_000016.9:g.8815 731_9090168dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	8,815,731	9,090,168

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17380572	0.001	1	1810

You are here: NCBI