A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122086



Internal ID18901184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68303982..69012282hg38UCSC Ensembl
Outerchr4:69169700..69878000hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38708301
hg19708301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969524
SamplesKWS2
Known GenesTMPRSS11E, UGT2A3, UGT2B10, UGT2B15, UGT2B17, YTHDC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122086
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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