A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818553



Internal ID16407394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128818595..128867243hg38UCSC Ensembl
Innerchr7:128458649..128507297hg19UCSC Ensembl
Innerchr7:128245885..128294533hg18UCSC Ensembl
Innerchr7:128052600..128101248hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3848649
hg1948649
hg1848649
hg1748649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415658
SamplesNA12248
Known GenesATP6V1F, CCDC136, FLNC, LOC100130705
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)nsv818553
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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