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

dbVar

Database of genomic structural variation

nsv5270949

Organism: Homo sapiens

Study:nstd204 (Chen et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:13,500

Publication(s):Chen et al. 2021

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: 148 SVs from 45 studies. See in: genome view

Submitted genomic53,492,201-53,505,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5270949	Submitted genomic		GRCh38.p13	Primary Assembly		NC_000012.12	Chr12	53,492,201	53,505,700
nsv5270949	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	53,885,985	53,899,484

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16796989	copy number variation	Sequencing	Read depth

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16796989	Submitted genomic		GRCh38.p13		NC_000012.12	Chr12	53,492,201	53,505,700
nssv16796989	Remapped	Perfect	GRCh37.p13	First Pass	NC_000012.11	Chr12	53,885,985	53,899,484

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI