A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417299



Internal ID16058270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:128100434..128128781hg38UCSC Ensembl
Innerchr9:130862713..130891060hg19UCSC Ensembl
Innerchr9:129902534..129930881hg18UCSC Ensembl
Innerchr9:127942267..127970614hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3828348
hg1928348
hg1828348
hg1728348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818724
Supporting Variants
SamplesNA18608
Known GenesLOC100289019, PTGES2, PTGES2-AS1, SLC25A25
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)nssv1417299
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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