A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442520



Internal ID15501239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:62304992..62311526hg38UCSC Ensembl
Innerchr8:63217551..63224085hg19UCSC Ensembl
Innerchr8:63380105..63386639hg18UCSC Ensembl
Innerchr8:63380105..63386639hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg386535
hg196535
hg186535
hg176535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1638058, nssv1638066, nssv1638069, nssv1638056, nssv1638050, nssv1638075, nssv1638062, nssv1638071, nssv1638057, nssv1638072, nssv1638055, nssv1638074, nssv1638065, nssv1638049, nssv1638068, nssv1638052, nssv1638051, nssv1638061, nssv1638059, nssv1638063, nssv1638067, nssv1638053, nssv1638064, nssv1638076, nssv1638070, nssv1638060, nssv1638073, nssv1638054
SamplesNA19141, NA18508, NA18855, NA18507, NA18870, NA19171, NA18860, NA19130, NA19137, NA19238, NA19172, NA19200, NA18859, NA19154, NA18857, NA19099, NA18523, NA19160, NA19132, NA18913, NA19100, NA18501, NA19223, NA19173, NA18521, NA18872, NA19139, NA19153
Known GenesNKAIN3
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442520
Frequency
Sample Size270
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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