A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568232



Internal ID16008955
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4319n54
Supporting Variantsnssv838352, nssv838350, nssv838354, nssv1148646, nssv838349, nssv838353, nssv838351, nssv838346, nssv838347, nssv838348
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)nsv568232
Frequency
Sample Size17421
Observed Gain8
Observed Loss2
Observed Complex0
Frequencyn/a


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