A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568236



Internal ID16008959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22732985..23109672hg38UCSC Ensembl
Innerchr15:22763396..23140114hg19UCSC Ensembl
Innerchr15:20314760..20691555hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38376688
hg19376719
hg18376796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4320n54
Supporting Variantsnssv1148654
SamplesHGDP00239
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv568236
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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