A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17039779



Internal ID94239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97668138..97668189hg38UCSC Ensembl
chr10:99427895..99427946hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404109
Supporting Variants
Samples
Known GenesPI4K2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17039779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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