A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542115



Internal ID15160020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133156364..133290774hg38UCSC Ensembl
Innerchr9:136031751..136166346hg19UCSC Ensembl
Innerchr9:135021572..135156167hg18UCSC Ensembl
Innerchr9:133061305..133195900hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38134411
hg19134596
hg18134596
hg17134596
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466613
Supporting Variants
SamplesHGDP00545
Known GenesABO, GBGT1, OBP2B
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)nssv542115
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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