A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285255



Internal ID22383631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30270036..30270261hg38UCSC Ensembl
chr13:30844173..30844398hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2207n152
Supporting Variantsnssv14425805
SamplesHG00514
Known GenesKATNAL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3285255
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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