A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438120



Internal ID15041351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:5846158..5865815hg38UCSC Ensembl
InnerchrX:5764199..5783856hg19UCSC Ensembl
InnerchrX:5774199..5793856hg18UCSC Ensembl
InnerchrX:5225704..5245361hg16UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg3819658
hg1919658
hg1819658
hg1619658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470129, nssv470131, nssv470133, nssv470132
SamplesNA18504, NA18503, NA18501, NA18500
Known Genes
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)nsv438120
Frequency
Sample Size269
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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