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

dbVar

Database of genomic structural variation

nsv5853044

Organism: Homo sapiens

Study:nstd209 (Almarri 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:2,700

Publication(s):Almarri et al. 2020

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: 245 SVs from 43 studies. See in: genome view

Submitted genomic24,906,433-24,909,132

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5853044	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	24,906,433	24,909,132
nsv5853044	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	25,059,367	25,062,066

Variant Call Information

Variant Call ID	Type	Method	Analysis	Copy number
nssv17457816	copy number variation	Sequencing	Sequence alignment	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17457816	Submitted genomic		GRCh38 (hg38)		NC_000012.12	Chr12	24,906,433	24,909,132
nssv17457816	Remapped	Perfect	GRCh37.p13	First Pass	NC_000012.11	Chr12	25,059,367	25,062,066

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