A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818506



Internal ID16407347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55411308..55415140hg38UCSC Ensembl
Innerchr7:55479001..55482833hg19UCSC Ensembl
Innerchr7:55446495..55450327hg18UCSC Ensembl
Innerchr7:55253210..55257042hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg383833
hg193833
hg183833
hg173833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417532, nssv1418379
SamplesNA10847, NA18968
Known GenesLANCL2
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)nsv818506
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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