A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470903



Internal ID15384543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22547242..22554840hg38UCSC Ensembl
Innerchr22:22889664..22897261hg19UCSC Ensembl
Innerchr22:21219664..21227261hg18UCSC Ensembl
Innerchr22:21214218..21221815hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg387599
hg197598
hg187598
hg167598
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA11831
Known GenesPRAME
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)nssv470903
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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