A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438201



Internal ID15041432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32370521..32378278hg38UCSC Ensembl
Innerchr12:32523455..32531212hg19UCSC Ensembl
Innerchr12:32414722..32422479hg18UCSC Ensembl
Innerchr12:32414722..32422479hg16UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387758
hg197758
hg187758
hg167758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470412, nssv470413
SamplesNA19137, NA19139
Known GenesBICD1
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)nsv438201
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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