A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116459



Internal ID18930553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:24595888..24953292hg38UCSC Ensembl
Outerchr13:25170026..25527430hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38357405
hg19357405
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978640
SamplesKWS2
Known GenesATP12A, CENPJ, RNF17, TPTE2P1, TPTE2P6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116459
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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