A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16938320



Internal ID26273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112604991..112605042hg38UCSC Ensembl
chr3:112323838..112323889hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555523
Supporting Variants
Samples
Known GenesCCDC80
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16938320
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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