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dbVar

Database of genomic structural variation

nsv5588050

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:166

Publication(s):Ebert et al. 2021

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: 130 SVs from 25 studies. See in: genome view

Submitted genomic56,444,439-56,444,604

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5588050	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	56,444,439	56,444,604
nsv5588050	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	56,955,808	56,955,973

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17106413	deletion	SAMN00001695	Sequencing	Sequence alignment	6,153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17106413	Submitted genomic		NC_000019.10:g.564 44439_56444604delA	GRCh38 (hg38)		NC_000019.10	Chr19	56,444,439	56,444,604
nssv17106413	Remapped	Perfect	NC_000019.9:g.5695 5808_56955973delA	GRCh37.p13	First Pass	NC_000019.9	Chr19	56,955,808	56,955,973

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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