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

dbVar

Database of genomic structural variation

nsv5946849

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:51

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: 156 SVs from 28 studies. See in: genome view

Submitted genomic70,384,946-70,384,996

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5946849	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	70,384,946	70,384,996
nsv5946849	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	70,778,726	70,778,776

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17351300	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17351300	Submitted genomic		NC_000012.12:g.703 84946_70384996del	GRCh38 (hg38)		NC_000012.12	Chr12	70,384,946	70,384,996
nssv17351300	Remapped	Perfect	NC_000012.11:g.707 78726_70778776del	GRCh37.p13	First Pass	NC_000012.11	Chr12	70,778,726	70,778,776

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