A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148653



Internal ID15532652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22732985..23117883hg38UCSC Ensembl
Innerchr15:22755185..23140114hg19UCSC Ensembl
Innerchr15:20306549..20691555hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38384899
hg19384930
hg18385007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv568234
Supporting Variants
SamplesHGDP01348
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)nssv1148653
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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