A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470384



Internal ID15041040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22051224..22081124hg38UCSC Ensembl
Innerchr12:22204158..22234058hg19UCSC Ensembl
Innerchr12:22095425..22125325hg18UCSC Ensembl
Innerchr12:22095425..22125325hg16UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3829901
hg1929901
hg1829901
hg1629901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438196
Supporting Variants
Samples
Known GenesCMAS
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)nssv470384
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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