A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978732



Internal ID53201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176023324..176117324hg38UCSC Ensembl
chr5:175450327..175544327hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3894001
hg1994001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141201
Supporting Variants
Samples
Known GenesFAM153B, LOC100996385
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978732
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.015207


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