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dbVar

Database of genomic structural variation

nsv5568320

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:315

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: 259 SVs from 41 studies. See in: genome view

Submitted genomic71,340,128-71,340,442

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5568320	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	71,340,128	71,340,442
nsv5568320	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	70,635,955	70,636,269

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17152735	deletion	HG02492	Sequencing	Sequence alignment	982

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17152735	Submitted genomic		NC_000005.10:g.713 40128_71340442delC	GRCh38 (hg38)		NC_000005.10	Chr5	71,340,128	71,340,442
nssv17152735	Remapped	Perfect	NC_000005.9:g.7063 5955_70636269delC	GRCh37.p13	First Pass	NC_000005.9	Chr5	70,635,955	70,636,269

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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