A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510497



Internal ID287111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22481471..23162242hg38UCSC Ensembl
chr15:22711672..23391625hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38680772
hg19679954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698515
Samples
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8I, HERC2P2, HERC2P7, LOC283683, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510497
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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