A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075724



Internal ID18976513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49536396..49538897hg38UCSC Ensembl
chrX:49300999..49303500hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769172
SamplesKWP1
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H, GAGE2A, GAGE2E, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075724
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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