A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116502



Internal ID19255941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57485238..57485352hg38UCSC Ensembl
Outerchr12:57879021..57879135hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978687
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116502
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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