A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568247



Internal ID16008970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22777657..23075159hg38UCSC Ensembl
Innerchr15:22797909..23095411hg19UCSC Ensembl
Innerchr15:20349273..20646852hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38297503
hg19297503
hg18297580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4317n54
Supporting Variantsnssv838370
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)nsv568247
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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