A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2980725



Internal ID15300667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:132028931..132030187hg38UCSC Ensembl
InnerchrX:131162959..131164215hg19UCSC Ensembl
InnerchrX:130990640..130991896hg18UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg381257
hg191257
hg181257
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515171
Supporting Variants
SamplesNA12776
Known GenesMST4
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2980725
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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