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

dbVar

Database of genomic structural variation

nsv6648130

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:2,300

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: 109 SVs from 25 studies. See in: genome view

Submitted genomic27,541,001-27,543,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6648130	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	27,541,001	27,543,300
nsv6648130	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	27,867,512	27,869,811

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18610961	duplication	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
nssv18610961	Submitted genomic		NC_000001.11:g.275 41001_27543300dup	GRCh38 (hg38)		NC_000001.11	Chr1	27,541,001	27,543,300
nssv18610961	Remapped	Perfect	NC_000001.10:g.278 67512_27869811dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	27,867,512	27,869,811

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)
nssv18610961	4e-06	1	264906

You are here: NCBI