A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438263



Internal ID15041493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:75881898..75894090hg38UCSC Ensembl
Innerchr14:76348241..76360433hg19UCSC Ensembl
Innerchr14:75417994..75430186hg18UCSC Ensembl
Innerchr14:74338282..74350474hg16UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3812193
hg1912193
hg1812193
hg1612193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470632, nssv470631, nssv470628
SamplesNA18502, NA19160, NA19153
Known GenesBCYRN1, TTLL5
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)nsv438263
Frequency
Sample Size269
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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