A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438270



Internal ID15388080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30032746..30045176hg38UCSC Ensembl
Innerchr2:30255612..30268042hg19UCSC Ensembl
Innerchr2:30109116..30121546hg18UCSC Ensembl
Innerchr2:30230147..30242577hg16UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3812431
hg1912431
hg1812431
hg1612431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470341
SamplesNA18579
Known Genes
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)nsv438270
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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