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

dbVar

Database of genomic structural variation

nsv6512298

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:509,409

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: 1437 SVs from 75 studies. See in: genome view

Submitted genomic101,004,154-101,513,562

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6512298	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	101,004,154	101,513,562
nsv6512298	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	101,470,491	101,979,899

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18187580	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18187580	Submitted genomic		NC_000014.9:g.1010 04154_101513562dup	GRCh38 (hg38)		NC_000014.9	Chr14	101,004,154	101,513,562
nssv18187580	Remapped	Perfect	NC_000014.8:g.1014 70491_101979899dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	101,470,491	101,979,899

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)
nssv18187580	<0.001	1	39302

You are here: NCBI