A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615230



Internal ID16055953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114154651..114173380hg38UCSC Ensembl
Innerchr9:116916931..116935660hg19UCSC Ensembl
Innerchr9:115956752..115975481hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3818730
hg1918730
hg1818730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12858n54
Supporting Variantsnssv1176469
SamplesNINDS_50
Known GenesCOL27A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615230
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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