A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280531



Internal ID22378844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55105973..55106100hg38UCSC Ensembl
chr5:54401801..54401928hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14434453
SamplesHG00514
Known GenesGZMA
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)nsv3280531
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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