A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534416



Internal ID22403702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176433025..176433025hg38UCSC Ensembl
chr5:175860026..175860026hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426333
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)nsv3534416
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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