A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542131



Internal ID15510464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134079705..134128468hg38UCSC Ensembl
Innerchr9:136944827..136993590hg19UCSC Ensembl
Innerchr9:135934648..135983411hg18UCSC Ensembl
Innerchr9:133974381..134023144hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3848764
hg1948764
hg1848764
hg1748764
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466631
Supporting Variants
SamplesHGDP01249
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)nssv542131
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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