A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077583



Internal ID18975089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49559896..49565197hg38UCSC Ensembl
chrX:49324499..49329800hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg385302
hg195302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763756
SamplesKWP1
Known GenesGAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12I, GAGE6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077583
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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