A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285055



Internal ID22383427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39352822..39352924hg38UCSC Ensembl
chr13:39926959..39927061hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2233n152
Supporting Variantsnssv14425942
SamplesHG00514
Known GenesLHFP
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)nsv3285055
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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