A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542062



Internal ID15160204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114283521..114341693hg38UCSC Ensembl
Innerchr9:117045801..117103973hg19UCSC Ensembl
Innerchr9:116085622..116143794hg18UCSC Ensembl
Innerchr9:114125355..114183527hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3858173
hg1958173
hg1858173
hg1758173
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466537
Supporting Variants
SamplesHGDP00573
Known GenesAKNA, COL27A1, ORM1, ORM2
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)nssv542062
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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