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dbVar

Database of genomic structural variation

nsv5578166

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:366

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: 1631 SVs from 71 studies. See in: genome view

Submitted genomic7,740,741-7,741,106

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5578166	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	7,740,741	7,741,106
nsv5578166	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	7,598,263	7,598,628

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17144926	deletion	HG00514	Sequencing	Sequence alignment	257

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17144926	Submitted genomic		NC_000008.11:g.774 0741_7741106delC	GRCh38 (hg38)		NC_000008.11	Chr8	7,740,741	7,741,106
nssv17144926	Remapped	Perfect	NC_000008.10:g.759 8263_7598628delC	GRCh37.p13	First Pass	NC_000008.10	Chr8	7,598,263	7,598,628

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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