A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129327



Internal ID19247733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131224622..131441168hg38UCSC Ensembl
Outerchr12:131709167..131925713hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38216547
hg19216547
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962760
SamplesKWS1
Known GenesLOC338797
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129327
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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