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

dbVar

Database of genomic structural variation

nsv6856083

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:7,750

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: 262 SVs from 39 studies. See in: genome view

Submitted genomic19,298,974-19,306,723

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6856083	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	19,298,974	19,306,723
nsv6856083	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	19,156,485	19,164,234

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18553062	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
nssv18553062	Submitted genomic		NC_000008.11:g.192 98974_19306723del	GRCh38 (hg38)		NC_000008.11	Chr8	19,298,974	19,306,723
nssv18553062	Remapped	Perfect	NC_000008.10:g.191 56485_19164234del	GRCh37.p13	First Pass	NC_000008.10	Chr8	19,156,485	19,164,234

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)
nssv18553062	1.8e-05	5	275810

You are here: NCBI