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

dbVar

Database of genomic structural variation

nsv6474842

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:654

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: 118 SVs from 48 studies. See in: genome view

Submitted genomic101,362,526-101,363,179

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6474842	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	101,362,526	101,363,179
nsv6474842	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	101,756,304	101,756,957

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17996691	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17996691	Submitted genomic		NC_000012.12:g.101 362526_101363179de l	GRCh38 (hg38)		NC_000012.12	Chr12	101,362,526	101,363,179
nssv17996691	Remapped	Perfect	NC_000012.11:g.101 756304_101756957de l	GRCh37.p13	First Pass	NC_000012.11	Chr12	101,756,304	101,756,957

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)
nssv17996691	0.183	7088	38822

You are here: NCBI