A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558182



Internal ID15998905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32178919..32182257hg38UCSC Ensembl
Innerchr12:32331853..32335191hg19UCSC Ensembl
Innerchr12:32223120..32226458hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383339
hg193339
hg183339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2491n54
Supporting Variantsnssv791920, nssv791921
Samples
Known GenesBICD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558182
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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