A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283570



Internal ID22381919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133828321..133828465hg38UCSC Ensembl
chr9:136693443..136693587hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9781n152
Supporting Variantsnssv14437436
SamplesHG00733
Known GenesVAV2
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)nsv3283570
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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