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

dbVar

Database of genomic structural variation

nsv6464898

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:1,427

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: 106 SVs from 27 studies. See in: genome view

Submitted genomic76,072,442-76,073,868

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6464898	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	76,072,442	76,073,868
nsv6464898	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	76,466,222	76,467,648

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18004069	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18004069	Submitted genomic		NC_000012.12:g.760 72442_76073868del	GRCh38 (hg38)		NC_000012.12	Chr12	76,072,442	76,073,868
nssv18004069	Remapped	Perfect	NC_000012.11:g.764 66222_76467648del	GRCh37.p13	First Pass	NC_000012.11	Chr12	76,466,222	76,467,648

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)
nssv18004069	<0.001	3	39006

You are here: NCBI