A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539957



Internal ID22409108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170648698..170648698hg38UCSC Ensembl
chr2:171505208..171505208hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448461
SamplesHG00733
Known GenesMYO3B
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)nsv3539957
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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