A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568231



Internal ID16008954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22770773..23119335hg38UCSC Ensembl
Innerchr15:22753733..23102295hg19UCSC Ensembl
Innerchr15:20305097..20653736hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38348563
hg19348563
hg18348640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4317n54
Supporting Variantsnssv838345
Samples
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)nsv568231
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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