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dbVar

Database of genomic structural variation

nsv5604290

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:54

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: 103 SVs from 25 studies. See in: genome view

Submitted genomic114,536,096-114,536,149

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5604290	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	114,536,096	114,536,149
nsv5604290	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	114,406,818	114,406,871

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17072519	deletion	SAMN00007882	Sequencing	Sequence alignment	1,354

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17072519	Submitted genomic		NC_000011.10:g.114 536096_114536149de lT	GRCh38 (hg38)		NC_000011.10	Chr11	114,536,096	114,536,149
nssv17072519	Remapped	Perfect	NC_000011.9:g.1144 06818_114406871del T	GRCh37.p13	First Pass	NC_000011.9	Chr11	114,406,818	114,406,871

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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