A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568253



Internal ID16008976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22584917..23042837hg38UCSC Ensembl
Innerchr15:22830231..23288179hg19UCSC Ensembl
Innerchr15:20381672..20839620hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38457921
hg19457949
hg18457949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4318n54
Supporting Variantsnssv838378
Samples
Known GenesCYFIP1, GOLGA8I, HERC2P2, LOC283683, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv568253
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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