A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817761



Internal ID16406602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41353966..41365943hg38UCSC Ensembl
Innerchr17:39510218..39522195hg19UCSC Ensembl
Innerchr17:36763744..36775721hg18UCSC Ensembl
Innerchr17:36763744..36775721hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3811978
hg1911978
hg1811978
hg1711978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv23n64
Supporting Variantsnssv1416886, nssv1416887, nssv1416216, nssv1416228
SamplesNA19239, NA19142, NA19140, NA19240
Known GenesKRT33B
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)nsv817761
Frequency
Sample Size112
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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