A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371212



Internal ID22193658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73085269..73141832hg38UCSC Ensembl
chr14:73551977..73608540hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3856564
hg1956564
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239176
Supporting Variants
SamplesHG00731
Known GenesPSEN1, RBM25
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371212
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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