A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5223



Internal ID15543974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49581034..49610360hg38UCSC Ensembl
OuterchrX:49345637..49374963hg19UCSC Ensembl
OuterchrX:49232581..49261910hg18UCSC Ensembl
OuterchrX:49048848..49078206hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg389910
hg199910
hg189910
hg179910
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6899
Supporting Variants
SamplesNA19129
Known GenesGAGE1, GAGE12C, GAGE12D, GAGE12E, GAGE12H, GAGE2A
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)nssv5223
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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