A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438229



Internal ID15041460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97483235..97495039hg38UCSC Ensembl
Innerchr12:97877013..97888817hg19UCSC Ensembl
Innerchr12:96401144..96412948hg18UCSC Ensembl
Innerchr12:96379481..96391285hg16UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3811805
hg1911805
hg1811805
hg1611805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470517, nssv470516
SamplesNA19139, NA19138
Known GenesMIR1251, RMST
MethodSNP array
AnalysisMendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438229
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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