A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470383



Internal ID15040578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22042268..22055010hg38UCSC Ensembl
Innerchr12:22195202..22207944hg19UCSC Ensembl
Innerchr12:22086469..22099211hg18UCSC Ensembl
Innerchr12:22086469..22099211hg16UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3812743
hg1912743
hg1812743
hg1612743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438196
Supporting Variants
SamplesNA19142
Known GenesCMAS
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)nssv470383
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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