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

dbVar

Database of genomic structural variation

nsv5270943

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:13,400

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: 220 SVs from 54 studies. See in: genome view

Submitted genomic122,704,301-122,717,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5270943	Submitted genomic		GRCh38.p13	Primary Assembly		NC_000012.12	Chr12	122,704,301	122,717,700
nsv5270943	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	123,188,848	123,202,247

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16807299	copy number variation	Sequencing	Read depth

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16807299	Submitted genomic		GRCh38.p13		NC_000012.12	Chr12	122,704,301	122,717,700
nssv16807299	Remapped	Perfect	GRCh37.p13	First Pass	NC_000012.11	Chr12	123,188,848	123,202,247

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