A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534409



Internal ID22403695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56098448..56098448hg38UCSC Ensembl
chr6:55963246..55963246hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14456658
SamplesHG00733
Known GenesCOL21A1
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)nsv3534409
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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