A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535870



Internal ID22405110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:782202..782202hg38UCSC Ensembl
chr7:821839..821839hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400905, nssv14465258
SamplesNA19240, HG00733
Known GenesHEATR2
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)nsv3535870
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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