A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543993



Internal ID15164127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2126462..2160422hg38UCSC Ensembl
Innerchr12:2235628..2269588hg19UCSC Ensembl
Innerchr12:2105889..2139849hg18UCSC Ensembl
Innerchr12:2105889..2139849hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3833961
hg1933961
hg1833961
hg1733961
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468968
Supporting Variants
SamplesHGDP01303
Known GenesCACNA1C
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)nssv543993
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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