A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417805



Internal ID22154187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25812491..25816464hg38UCSC Ensembl
chr13:26386629..26390602hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383974
hg193974
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207654
Supporting Variants
SamplesHG00514
Known GenesATP8A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14417805
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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