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dbVar

Database of genomic structural variation

nsv5600606

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:406

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

Submitted genomic51,069,350-51,069,755

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5600606	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	51,069,350	51,069,755
nsv5600606	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	51,463,133	51,463,538

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17081933	deletion	SAMN00001694	Sequencing	Sequence alignment	8,610

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17081933	Submitted genomic		NC_000012.12:g.510 69350_51069755delG	GRCh38 (hg38)		NC_000012.12	Chr12	51,069,350	51,069,755
nssv17081933	Remapped	Perfect	NC_000012.11:g.514 63133_51463538delG	GRCh37.p13	First Pass	NC_000012.11	Chr12	51,463,133	51,463,538

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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