A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818535



Internal ID16060690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:89235118..89241787hg38UCSC Ensembl
Innerchr7:88864432..88871101hg19UCSC Ensembl
Innerchr7:88702368..88709037hg18UCSC Ensembl
Innerchr7:88509083..88515752hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg386670
hg196670
hg186670
hg176670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418288, nssv1418289
SamplesNA19093, NA19094
Known GenesZNF804B
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)nsv818535
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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