A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8692



Internal ID15535172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:16543400..16588210hg38UCSC Ensembl
OuterchrX:16561523..16606333hg19UCSC Ensembl
OuterchrX:16471444..16516254hg18UCSC Ensembl
OuterchrX:16321180..16365990hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3844811
hg1944811
hg1844811
hg1744811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6814
Supporting Variants
SamplesNA12156
Known GenesCTPS2
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)nssv8692
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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