A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470784



Internal ID15387417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10522542..10555734hg38UCSC Ensembl
Innerchr21:10956723..10989915hg19UCSC Ensembl
Innerchr21:9978594..10011786hg18UCSC Ensembl
Innerchr21:9979029..10012221hg16UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3833193
hg1933193
hg1833193
hg1633193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438312
Supporting Variants
SamplesNA19172
Known GenesTPTE
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)nssv470784
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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