A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533209



Internal ID15508557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:107641050..107651974hg38UCSC Ensembl
Innerchr12:108034827..108045751hg19UCSC Ensembl
Innerchr12:106558957..106569881hg18UCSC Ensembl
Innerchr12:106537294..106548218hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3810925
hg1910925
hg1810925
hg1710925
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455705
Supporting Variants
SamplesHGDP00862
Known GenesBTBD11
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)nssv533209
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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