A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470218



Internal ID15386421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:116457946..116458613hg38UCSC Ensembl
InnerchrX:115589112..115589779hg19UCSC Ensembl
InnerchrX:115503140..115503807hg18UCSC Ensembl
InnerchrX:114373214..114373881hg16UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38668
hg19668
hg18668
hg16668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438153
Supporting Variants
SamplesNA18943
Known GenesSLC6A14
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)nssv470218
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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