A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv471216



Internal ID15039396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232363123..232387927hg38UCSC Ensembl
Innerchr2:233227833..233252637hg19UCSC Ensembl
Innerchr2:232936077..232960881hg18UCSC Ensembl
Innerchr2:233430372..233455176hg16UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3824805
hg1924805
hg1824805
hg1624805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438382
Supporting Variants
SamplesNA18622
Known GenesALPP, ECEL1P2
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv471216
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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