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

dbVar

Database of genomic structural variation

nsv6993287

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:19,811

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: 169 SVs from 37 studies. See in: genome view

Submitted genomic32,417,361-32,437,171

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6993287	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	32,417,361	32,437,171
nsv6993287	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	30,744,380	30,764,189

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18407871	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
nssv18407871	Submitted genomic		NC_000017.11:g.324 17361_32437171del	GRCh38 (hg38)		NC_000017.11	Chr17	32,417,361	32,437,171
nssv18407871	Remapped	Good	NC_000017.10:g.307 44380_30764189del	GRCh37.p13	First Pass	NC_000017.10	Chr17	30,744,380	30,764,189

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)
nssv18407871	7e-06	2	276218

You are here: NCBI