A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542023



Internal ID15159029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113053118..113104996hg38UCSC Ensembl
Innerchr9:115815398..115867276hg19UCSC Ensembl
Innerchr9:114855219..114907097hg18UCSC Ensembl
Innerchr9:112894953..112946830hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3851879
hg1951879
hg1851879
hg1751878
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466493
Supporting Variants
SamplesHGDP00199
Known GenesFAM225B, ZFP37
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)nssv542023
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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