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dbVar

Database of genomic structural variation

nsv5599937

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:284

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: 124 SVs from 38 studies. See in: genome view

Submitted genomic65,060,426-65,060,709

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5599937	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	65,060,426	65,060,709
nsv5599937	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	65,527,144	65,527,427

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17085616	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
nssv17085616	Submitted genomic		NC_000014.9:g.6506 0426_65060709delT	GRCh38 (hg38)		NC_000014.9	Chr14	65,060,426	65,060,709
nssv17085616	Remapped	Perfect	NC_000014.8:g.6552 7144_65527427delT	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,527,144	65,527,427

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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