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dbVar

Database of genomic structural variation

nsv5940971

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:7,283

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: 155 SVs from 31 studies. See in: genome view

Submitted genomic14,548,048-14,555,330

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5940971	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	14,548,048	14,555,330
nsv5940971	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	14,658,860	14,666,142

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17391242	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17391242	Submitted genomic		NC_000019.10:g.145 48048_14555330del	GRCh38 (hg38)		NC_000019.10	Chr19	14,548,048	14,555,330
nssv17391242	Remapped	Perfect	NC_000019.9:g.1465 8860_14666142del	GRCh37.p13	First Pass	NC_000019.9	Chr19	14,658,860	14,666,142

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.

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