A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539373



Internal ID22408536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68978296..68978296hg38UCSC Ensembl
chr2:69205428..69205428hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394125
SamplesNA19240
Known GenesGKN1
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)nsv3539373
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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