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

dbVar

Database of genomic structural variation

nsv5503842

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:146

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: 103 SVs from 33 studies. See in: genome view

Submitted genomic70,813,492-70,813,637

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5503842	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	70,813,492	70,813,637
nsv5503842	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	71,280,209	71,280,354

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17696445	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17696445	Submitted genomic		NC_000014.9:g.7081 3492_70813637dup	GRCh38 (hg38)		NC_000014.9	Chr14	70,813,492	70,813,637
nssv17696445	Remapped	Perfect	NC_000014.8:g.7128 0209_71280354dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	71,280,209	71,280,354

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)
nssv17696445	0.199	1276	6404

You are here: NCBI