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dbVar

Database of genomic structural variation

nsv5599888

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:62

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: 117 SVs from 34 studies. See in: genome view

Submitted genomic114,577,013-114,577,074

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5599888	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	114,577,013	114,577,074
nsv5599888	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	114,447,735	114,447,796

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17072521	deletion	SAMN00001695	Sequencing	Sequence alignment	6,153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17072521	Submitted genomic		NC_000011.10:g.114 577013_114577074de lA	GRCh38 (hg38)		NC_000011.10	Chr11	114,577,013	114,577,074
nssv17072521	Remapped	Perfect	NC_000011.9:g.1144 47735_114447796del A	GRCh37.p13	First Pass	NC_000011.9	Chr11	114,447,735	114,447,796

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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