A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5236



Internal ID15543875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:90255234..90286437hg38UCSC Ensembl
OuterchrX:89510233..89541436hg19UCSC Ensembl
OuterchrX:89396889..89428092hg18UCSC Ensembl
OuterchrX:89316378..89347581hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg387787
hg197787
hg187787
hg177787
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6991
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)nssv5236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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