A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558176



Internal ID15998899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32178735..32180645hg38UCSC Ensembl
Innerchr12:32331669..32333579hg19UCSC Ensembl
Innerchr12:32222936..32224846hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381911
hg191911
hg181911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2490n54
Supporting Variantsnssv791890, nssv791889, nssv791892, nssv791893, nssv791891
Samples
Known GenesBICD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558176
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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