A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287013



Internal ID22385411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82908778..82908872hg38UCSC Ensembl
chr5:82204597..82204691hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7414n152
Supporting Variantsnssv14436137
SamplesHG00514
Known Genes
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)nsv3287013
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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