A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5254



Internal ID15543732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:115840391..115861883hg38UCSC Ensembl
OuterchrX:114801485..114808034hg17UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3822319
hg1722319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7049
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)nssv5254
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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