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

dbVar

Database of genomic structural variation

nsv5947429

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:1,909

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: 135 SVs from 44 studies. See in: genome view

Submitted genomic45,811,656-45,813,564

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5947429	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	45,811,656	45,813,564
nsv5947429	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	46,314,914	46,316,822

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17404476	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17404476	Submitted genomic		NC_000019.10:g.458 11656_45813564del	GRCh38 (hg38)		NC_000019.10	Chr19	45,811,656	45,813,564
nssv17404476	Remapped	Perfect	NC_000019.9:g.4631 4914_46316822del	GRCh37.p13	First Pass	NC_000019.9	Chr19	46,314,914	46,316,822

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