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

dbVar

Database of genomic structural variation

nsv6970803

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:290,462

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: 798 SVs from 69 studies. See in: genome view

Submitted genomic64,806,202-65,096,663

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6970803	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	64,806,202	65,096,663
nsv6970803	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	65,272,920	65,563,381

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18614582	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
nssv18614582	Submitted genomic		NC_000014.9:g.6480 6202_65096663dup	GRCh38 (hg38)		NC_000014.9	Chr14	64,806,202	65,096,663
nssv18614582	Remapped	Perfect	NC_000014.8:g.6527 2920_65563381dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,272,920	65,563,381

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)
nssv18614582	4e-06	1	275402

You are here: NCBI