A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717622



Internal ID141288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41155455..42122070hg38UCSC Ensembl
chr18:38735419..39702034hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38966616
hg19966616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530480
Supporting Variants
Samples
Known GenesKC6, PIK3C3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717622
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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