A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530625



Internal ID22399999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84892616..84892616hg38UCSC Ensembl
chr2:85119740..85119740hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393650, nssv14448937
SamplesNA19240, HG00733
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)nsv3530625
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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