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

dbVar

Database of genomic structural variation

nsv6997411

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:4,827

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: 123 SVs from 16 studies. See in: genome view

Submitted genomic77,970,285-77,975,111

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6997411	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	77,970,285	77,975,111
nsv6997411	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	75,966,367	75,971,192

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18413325	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
nssv18413325	Submitted genomic		NC_000017.11:g.779 70285_77975111del	GRCh38 (hg38)		NC_000017.11	Chr17	77,970,285	77,975,111
nssv18413325	Remapped	Good	NC_000017.10:g.759 66367_75971192del	GRCh37.p13	First Pass	NC_000017.10	Chr17	75,966,367	75,971,192

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)
nssv18413325	4e-06	1	276158

You are here: NCBI