A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978562



Internal ID53079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168256253..168256267hg38UCSC Ensembl
chr5:167683258..167683272hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545162
Supporting Variants
Samples
Known GenesTENM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978562
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.011101


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