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dbVar

Database of genomic structural variation

nsv5583704

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:757

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: 202 SVs from 52 studies. See in: genome view

Submitted genomic194,400,435-194,401,191

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5583704	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	194,400,435	194,401,191
nsv5583704	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	194,121,164	194,121,920

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17120776	deletion	SAMN00006580	Sequencing	Sequence alignment	9,409

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17120776	Submitted genomic		NC_000003.12:g.194 400435_194401191de lT	GRCh38 (hg38)		NC_000003.12	Chr3	194,400,435	194,401,191
nssv17120776	Remapped	Perfect	NC_000003.11:g.194 121164_194121920de lT	GRCh37.p13	First Pass	NC_000003.11	Chr3	194,121,164	194,121,920

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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