A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533636



Internal ID22402941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:23728400..23728400hg38UCSC Ensembl
chr6:23728628..23728628hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425785
SamplesHG00514
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)nsv3533636
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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