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dbVar

Database of genomic structural variation

nsv5595664

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:323

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 27 studies. See in: genome view

Submitted genomic42,700,914-42,701,236

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5595664	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	42,700,914	42,701,236
nsv5595664	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	43,196,362	43,196,684

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17070033	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
nssv17070033	Submitted genomic		NC_000010.11:g.427 00914_42701236delG	GRCh38 (hg38)		NC_000010.11	Chr10	42,700,914	42,701,236
nssv17070033	Remapped	Perfect	NC_000010.10:g.431 96362_43196684delG	GRCh37.p13	First Pass	NC_000010.10	Chr10	43,196,362	43,196,684

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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