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dbVar

Database of genomic structural variation

nsv5598124

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:103

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: 330 SVs from 42 studies. See in: genome view

Submitted genomic45,969,502-45,969,604

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5598124	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	45,969,502	45,969,604
nsv5598124	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	44,046,868	44,046,970

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17085763	deletion	NA24385	Sequencing	Sequence alignment	2,573

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17085763	Submitted genomic		NC_000017.11:g.459 69502_45969604delA	GRCh38 (hg38)		NC_000017.11	Chr17	45,969,502	45,969,604
nssv17085763	Remapped	Perfect	NC_000017.10:g.440 46868_44046970delA	GRCh37.p13	First Pass	NC_000017.10	Chr17	44,046,868	44,046,970

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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