A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960796



Internal ID18874692
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 StatusS
Merged Variantsnsv1120054
Supporting Variants
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)nssv3960796
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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