A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817763



Internal ID16406604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41353966..41370910hg38UCSC Ensembl
Innerchr17:39510218..39527162hg19UCSC Ensembl
Innerchr17:36763744..36780688hg18UCSC Ensembl
Innerchr17:36763744..36780688hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3816945
hg1916945
hg1816945
hg1716945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv23n64
Supporting Variantsnssv1418327, nssv1418324
SamplesNA19094, NA19093
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)nsv817763
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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