A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568246



Internal ID16008969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22788625..23081637hg38UCSC Ensembl
Innerchr15:22791431..23084443hg19UCSC Ensembl
Innerchr15:20342795..20635884hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38293013
hg19293013
hg18293090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4317n54
Supporting Variantsnssv838369
Samples
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)nsv568246
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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