A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532501



Internal ID22401829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216560079..216560079hg38UCSC Ensembl
chr2:217424802..217424802hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421349
SamplesHG00514
Known Genes
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)nsv3532501
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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