A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv791930



Internal ID15739200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32178974..32182257hg38UCSC Ensembl
Innerchr12:32331908..32335191hg19UCSC Ensembl
Innerchr12:32223175..32226458hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383284
hg193284
hg183284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558185
Supporting Variants
Samples
Known GenesBICD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv791930
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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