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

dbVar

Database of genomic structural variation

nsv6989837

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:70,180

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: 724 SVs from 73 studies. See in: genome view

Submitted genomic84,437,793-84,507,972

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6989837	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	84,437,793	84,507,972
nsv6989837	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	84,471,399	84,541,578

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18405092	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18405092	Submitted genomic		NC_000016.10:g.844 37793_84507972del	GRCh38 (hg38)		NC_000016.10	Chr16	84,437,793	84,507,972
nssv18405092	Remapped	Perfect	NC_000016.9:g.8447 1399_84541578del	GRCh37.p13	First Pass	NC_000016.9	Chr16	84,471,399	84,541,578

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)
nssv18405092	4e-06	1	276134

You are here: NCBI