A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125352



Internal ID19271485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49712989..49713067hg38UCSC Ensembl
Outerchr13:50287125..50287203hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983527
SamplesKWS2
Known GenesKPNA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125352
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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