Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5603387

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:1,237

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

Submitted genomic92,977,548-92,978,784

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5603387	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	92,977,548	92,978,784
nsv5603387	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000014.8	Chr14	93,443,893	93,445,129

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17098438	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
nssv17098438	Submitted genomic		NC_000014.9:g.9297 7548_92978784delG	GRCh38 (hg38)		NC_000014.9	Chr14	92,977,548	92,978,784
nssv17098438	Remapped	Perfect	NC_000014.8:g.9344 3893_93445129delG	GRCh37.p13	Second Pass	NC_000014.8	Chr14	93,443,893	93,445,129

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.

You are here: NCBI