A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767700



Internal ID18958833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49545996..49548897hg38UCSC Ensembl
chrX:49310599..49313500hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075725
Supporting Variants
SamplesKWP1
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H, GAGE2A, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767700
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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