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

dbVar

Database of genomic structural variation

nsv5945851

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:309

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: 126 SVs from 26 studies. See in: genome view

Submitted genomic18,251,307-18,251,615

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5945851	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	18,251,307	18,251,615
nsv5945851	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	18,362,117	18,362,425

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17406113	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17406113	Submitted genomic		NC_000019.10:g.182 51307_18251615del	GRCh38 (hg38)		NC_000019.10	Chr19	18,251,307	18,251,615
nssv17406113	Remapped	Perfect	NC_000019.9:g.1836 2117_18362425del	GRCh37.p13	First Pass	NC_000019.9	Chr19	18,362,117	18,362,425

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