A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148647



Internal ID15507956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22738859..23117883hg38UCSC Ensembl
Innerchr15:22755185..23134244hg19UCSC Ensembl
Innerchr15:20306549..20685685hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38379025
hg19379060
hg18379137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv568233
Supporting Variants
Samples1780862252_A
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)nssv1148647
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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