A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129365



Internal ID19258830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45763196..45781372hg38UCSC Ensembl
Outerchr12:46156979..46175155hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3818177
hg1918177
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962802
SamplesKWS1
Known GenesARID2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129365
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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