A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698510



Internal ID122176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22416242..23222242hg38UCSC Ensembl
chr15:22650826..23456854hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38806001
hg19806029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511031
Supporting Variants
Samples
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8EP, GOLGA8I, HERC2P2, HERC2P7, LOC283683, MIR4509-1, MIR4509-2, MIR4509-3, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002655


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