A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148646



Internal ID15528002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22788625..23117883hg38UCSC Ensembl
Innerchr15:22755185..23084443hg19UCSC Ensembl
Innerchr15:20306549..20635884hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38329259
hg19329259
hg18329336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv568232
Supporting Variants
SamplesHGDP00573
Known GenesCYFIP1, NIPA1, NIPA2, TUBGCP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148646
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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