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dbVar

Database of genomic structural variation

nsv5574013

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: 124 SVs from 31 studies. See in: genome view

Submitted genomic69,175,268-69,175,321

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5574013	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	69,175,268	69,175,321
nsv5574013	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	68,471,095	68,471,148

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17154588	deletion	HG01114	Sequencing	Sequence alignment	977

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17154588	Submitted genomic		NC_000005.10:g.691 75268_69175321delT	GRCh38 (hg38)		NC_000005.10	Chr5	69,175,268	69,175,321
nssv17154588	Remapped	Perfect	NC_000005.9:g.6847 1095_68471148delT	GRCh37.p13	First Pass	NC_000005.9	Chr5	68,471,095	68,471,148

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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