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dbVar

Database of genomic structural variation

nsv5577266

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:8,248

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: 373 SVs from 56 studies. See in: genome view

Submitted genomic14,649,475-14,657,722

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5577266	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	14,649,475	14,657,722
nsv5577266	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	14,506,984	14,515,231

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17142362	deletion	HG02011	Sequencing	Sequence alignment	2,906

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17142362	Submitted genomic		NC_000008.11:g.146 49475_14657722delG	GRCh38 (hg38)		NC_000008.11	Chr8	14,649,475	14,657,722
nssv17142362	Remapped	Perfect	NC_000008.10:g.145 06984_14515231delG	GRCh37.p13	First Pass	NC_000008.10	Chr8	14,506,984	14,515,231

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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