A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535483



Internal ID22404727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126302452..126302452hg38UCSC Ensembl
chr6:126623598..126623598hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455801
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3535483
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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