A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470537



Internal ID15384214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101130198..101138306hg38UCSC Ensembl
Innerchr12:101523976..101532084hg19UCSC Ensembl
Innerchr12:100048107..100056215hg18UCSC Ensembl
Innerchr12:100026444..100034552hg16UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388109
hg198109
hg188109
hg168109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438233
Supporting Variants
SamplesNA10835
Known Genes
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)nssv470537
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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