A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818520



Internal ID16060676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76556311..77008124hg38UCSC Ensembl
Innerchr7:76185628..76637441hg19UCSC Ensembl
Innerchr7:76023564..76475377hg18UCSC Ensembl
Innerchr7:75830279..76282092hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38451814
hg19451814
hg18451814
hg17451814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv63n64
Supporting Variantsnssv1415846, nssv1415845
SamplesNA10860, NA11992
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3
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)nsv818520
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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