A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767415



Internal ID18962443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49571396..49573797hg38UCSC Ensembl
chrX:49335999..49338400hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382402
hg192402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077584
Supporting Variants
SamplesKWP1
Known GenesGAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12I, GAGE6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767415
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer