A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2791906



Internal ID15749979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8218812..8226529hg38UCSC Ensembl
Innerchr12:8371408..8379125hg19UCSC Ensembl
Innerchr12:8262675..8270392hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387718
hg197718
hg187718
Variant TypeCNV gain
Copy Number42
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514677
Supporting Variants
SamplesNA19172
Known GenesFAM90A1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2791906
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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