A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5255



Internal ID15543724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:115872942..115895053hg38UCSC Ensembl
OuterchrX:114995223..115011386hg19UCSC Ensembl
OuterchrX:114912288..114925414hg18UCSC Ensembl
OuterchrX:114810142..114823268hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3818548
hg1918548
hg1818548
hg1718548
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7050
Supporting Variants
SamplesNA19129
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5255
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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