A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511031



Internal ID287634
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 StatusM
Merged Variants
Supporting Variantsnssv17698510
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)nsv5511031
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer