A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533384



Internal ID22402696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34992651..34992651hg38UCSC Ensembl
chr1:35458252..35458252hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388547
SamplesNA19240
Known GenesZMYM6
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)nsv3533384
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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