A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129077



Internal ID18921126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49323289..49337828hg38UCSC Ensembl
OuterchrX:49186100..49203800hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3814540
hg1917701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961750
SamplesKWS1
Known GenesGAGE13, GAGE2A, GAGE2C, GAGE2D, GAGE2E, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129077
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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