A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470378



Internal ID15041053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18326920..18412129hg38UCSC Ensembl
Innerchr12:18479854..18565063hg19UCSC Ensembl
Innerchr12:18371121..18456330hg18UCSC Ensembl
Innerchr12:18371121..18456330hg16UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3885210
hg1985210
hg1885210
hg1685210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438194
Supporting Variants
Samples
Known GenesPIK3C2G
MethodSNP array
AnalysisHardy-Weinberg disequilibrium - we looked for genomic regions in which hetobs/hetexp consistency fell below some cutoff (we used cutoffs of 0.7 and 0.4).
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470378
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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