A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2980003



Internal ID15411673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120872646..120990097hg38UCSC Ensembl
InnerchrX:120006500..120123951hg19UCSC Ensembl
InnerchrX:119890528..119951632hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38117452
hg19117452
hg1861105
Variant TypeCNV gain
Copy Number13
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515167
Supporting Variants
SamplesNA19193
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2980003
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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