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dbVar

Database of genomic structural variation

nsv5574001

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:5,343

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

Submitted genomic28,165,146-28,170,488

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5574001	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	28,165,146	28,170,488
nsv5574001	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	28,166,768	28,172,110

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17125858	deletion	HG03371	Sequencing	Sequence alignment	2,852

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17125858	Submitted genomic		NC_000004.12:g.281 65146_28170488delG	GRCh38 (hg38)		NC_000004.12	Chr4	28,165,146	28,170,488
nssv17125858	Remapped	Perfect	NC_000004.11:g.281 66768_28172110delG	GRCh37.p13	First Pass	NC_000004.11	Chr4	28,166,768	28,172,110

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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