A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120054



Internal ID18907186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64760949..68191856hg38UCSC Ensembl
Outerchr17:62757067..66187997hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg383430908
hg193430931
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960796
SamplesKWS1
Known GenesAMZ2P1, APOH, AXIN2, BPTF, C17orf58, CACNG1, CACNG4, CACNG5, CEP112, GNA13, HELZ, KPNA2, LINC00674, LOC146880, LRRC37A3, MIR4315-1, MIR4315-2, MIR6080, MIR634, NOL11, PITPNC1, PLEKHM1P, PRKCA, PSMD12, RGS9, SNORA38B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120054
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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