A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542003



Internal ID15502841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104518287..104538331hg38UCSC Ensembl
Innerchr9:107280568..107300612hg19UCSC Ensembl
Innerchr9:106320389..106340433hg18UCSC Ensembl
Innerchr9:104360123..104380167hg17UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3820045
hg1920045
hg1820045
hg1720045
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466462
Supporting Variants
Samples1780854566_A
Known GenesOR13C3, OR13C4
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)nssv542003
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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