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dbVar

Database of genomic structural variation

nsv5587815

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:240

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: 119 SVs from 29 studies. See in: genome view

Submitted genomic50,693,036-50,693,275

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5587815	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	50,693,036	50,693,275
nsv5587815	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	50,726,947	50,727,186

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17091139	deletion	HG02587	Sequencing	Sequence alignment	2,330

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17091139	Submitted genomic		NC_000016.10:g.506 93036_50693275delC	GRCh38 (hg38)		NC_000016.10	Chr16	50,693,036	50,693,275
nssv17091139	Remapped	Perfect	NC_000016.9:g.5072 6947_50727186delC	GRCh37.p13	First Pass	NC_000016.9	Chr16	50,726,947	50,727,186

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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