A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438127



Internal ID15387938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:28016340..28083848hg38UCSC Ensembl
InnerchrX:28034457..28101965hg19UCSC Ensembl
InnerchrX:27944378..28011886hg18UCSC Ensembl
InnerchrX:27395883..27463391hg16UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3867509
hg1967509
hg1867509
hg1667509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470150, nssv470149
SamplesNA18972
Known Genes
MethodSNP array
AnalysisHardy-Weinberg disequilibrium - we looked for genomic regions in which hetobs/hetexp consistency fell below some cutoff (we used cutoffs of 0.7 and 0.4).
Null 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)nsv438127
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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