A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378637



Internal ID22313267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25812491..25816463hg38UCSC Ensembl
chr13:26386629..26390601hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383973
hg193973
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203563
Supporting Variants
SamplesNA19240
Known GenesATP8A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378637
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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