A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817764



Internal ID16406605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41375150..41379607hg38UCSC Ensembl
Innerchr17:39531402..39535859hg19UCSC Ensembl
Innerchr17:36784928..36789385hg18UCSC Ensembl
Innerchr17:36784928..36789385hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384458
hg194458
hg184458
hg174458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415868
SamplesNA11992
Known GenesKRT34
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)nsv817764
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer