A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818760



Internal ID16060915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46332377hg38UCSC Ensembl
Innerchr10:47543322..47703613hg19UCSC Ensembl
Innerchr10:47013328..47173619hg18UCSC Ensembl
Innerchr10:47013328..47173619hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38160292
hg19160292
hg18160292
hg17160292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415961, nssv1416260, nssv1417414, nssv1415950, nssv1416262, nssv1417180, nssv1416859, nssv1415939
SamplesNA19142, NA18951, NA18550, NA19140, NA19239, NA12056, NA19141, NA10851
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nsv818760
Frequency
Sample Size112
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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