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dbVar

Database of genomic structural variation

nsv5565646

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:67

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: 150 SVs from 47 studies. See in: genome view

Submitted genomic125,343,442-125,343,508

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5565646	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	125,343,442	125,343,508
nsv5565646	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	125,062,286	125,062,352

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17138882	deletion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17138882	Submitted genomic		NC_000003.12:g.125 343442_125343508de lG	GRCh38 (hg38)		NC_000003.12	Chr3	125,343,442	125,343,508
nssv17138882	Remapped	Perfect	NC_000003.11:g.125 062286_125062352de lG	GRCh37.p13	First Pass	NC_000003.11	Chr3	125,062,286	125,062,352

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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