A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978737



Internal ID53205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176042324..176227324hg38UCSC Ensembl
chr5:175469327..175654327hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38185001
hg19185001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472983
Supporting Variants
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978737
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008432


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