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

dbVar

Database of genomic structural variation

nsv5503911

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:72

Publication(s):Byrska-Bishop et al. 2022

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: 77 SVs from 17 studies. See in: genome view

Submitted genomic89,980,328-89,980,399

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5503911	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	89,980,328	89,980,399
nsv5503911	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	90,446,672	90,446,743

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17697168	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17697168	Submitted genomic		NC_000014.9:g.8998 0328_89980399dup	GRCh38 (hg38)		NC_000014.9	Chr14	89,980,328	89,980,399
nssv17697168	Remapped	Perfect	NC_000014.8:g.9044 6672_90446743dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	90,446,672	90,446,743

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17697168	<0.001	3	6404

You are here: NCBI