A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542172



Internal ID15509073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137971737..138133487hg38UCSC Ensembl
Innerchr9:140866189..141027939hg19UCSC Ensembl
Innerchr9:139986010..140147760hg18UCSC Ensembl
Innerchr9:138142026..138303776hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38161751
hg19161751
hg18161751
hg17161751
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466691
Supporting Variants
SamplesHGDP00938
Known GenesCACNA1B
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)nssv542172
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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