A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194987



Internal ID22345231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25812491..25816470hg38UCSC Ensembl
chr13:26386629..26390608hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383980
hg193980
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2186n152
Supporting Variantsnssv14444114
SamplesHG00733
Known GenesATP8A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194987
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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