A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438212



Internal ID15041443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56620060..56621349hg38UCSC Ensembl
Innerchr12:57013844..57015133hg19UCSC Ensembl
Innerchr12:55300111..55301400hg18UCSC Ensembl
Innerchr12:55300111..55301400hg16UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381290
hg191290
hg181290
hg161290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470449, nssv470450
SamplesNA12707, NA12717
Known GenesBAZ2A
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)nsv438212
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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