A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2992504



Internal ID15598349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:76917205..76920597hg38UCSC Ensembl
InnerchrX:76137630..76141022hg19UCSC Ensembl
InnerchrX:76054024..76057416hg18UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg383393
hg193393
hg183393
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515214
Supporting Variants
SamplesNA10830
Known GenesMIR384
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2992504
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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