A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535926



Internal ID22405165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:165749182..165749182hg38UCSC Ensembl
chr6:166162670..166162670hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400519, nssv14426550, nssv14466367
SamplesNA19240, HG00733, HG00514
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)nsv3535926
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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