A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542019



Internal ID15512338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112953875..112983376hg38UCSC Ensembl
Innerchr9:115716155..115745656hg19UCSC Ensembl
Innerchr9:114755976..114785477hg18UCSC Ensembl
Innerchr9:112795710..112825211hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3829502
hg1929502
hg1829502
hg1729502
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466489
Supporting Variants
SamplesNINDS_232
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv542019
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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