A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438125



Internal ID15041356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:16585228..16592399hg38UCSC Ensembl
InnerchrX:16603351..16610522hg19UCSC Ensembl
InnerchrX:16513272..16520443hg18UCSC Ensembl
InnerchrX:15964777..15971948hg16UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg387172
hg197172
hg187172
hg167172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470148, nssv470145, nssv470147, nssv470146
SamplesNA19141, NA19128, NA19103, NA19154
Known GenesCTPS2
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)nsv438125
Frequency
Sample Size269
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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