A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817616



Internal ID16059771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1257135..1306704hg38UCSC Ensembl
Innerchr1:1192515..1242084hg19UCSC Ensembl
Innerchr1:1182378..1231947hg18UCSC Ensembl
Innerchr1:1232438..1282007hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3849570
hg1949570
hg1849570
hg1749570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417737
SamplesNA19003
Known GenesACAP3, MIR6726, SCNN1D, UBE2J2
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)nsv817616
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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