nsv5596227 - dbVar Variant - NCBI

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nsv5596227

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:68

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: 140 SVs from 32 studies. See in: genome view

Submitted genomic69,325,359-69,325,426

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5596227	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	69,325,359	69,325,426
nsv5596227	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	69,359,262	69,359,329

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17099363	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
nssv17099363	Submitted genomic		NC_000016.10:g.693 25359_69325426delT	GRCh38 (hg38)		NC_000016.10	Chr16	69,325,359	69,325,426
nssv17099363	Remapped	Perfect	NC_000016.9:g.6935 9262_69359329delT	GRCh37.p13	First Pass	NC_000016.9	Chr16	69,359,262	69,359,329

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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