A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5206



Internal ID15544050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27967538..28012816hg38UCSC Ensembl
OuterchrX:27985655..28030933hg19UCSC Ensembl
OuterchrX:27895576..27940854hg18UCSC Ensembl
OuterchrX:27745312..27790590hg17UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3845279
hg1945279
hg1845279
hg1745279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6839
Supporting Variants
SamplesNA19129
Known GenesDCAF8L1
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)nssv5206
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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