A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455733



Internal ID15169112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123635436..123711309hg38UCSC Ensembl
Innerchr12:124119983..124195856hg19UCSC Ensembl
Innerchr12:122685936..122761809hg18UCSC Ensembl
Innerchr12:122644863..122720736hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3875874
hg1975874
hg1875874
hg1775874
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533228
SamplesNINDS_10
Known GenesGTF2H3, TCTN2
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)nsv455733
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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