A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546972



Internal ID22415952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57350841..57350841hg38UCSC Ensembl
chr20:55925897..55925897hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395941, nssv14395940
SamplesNA19240
Known GenesMIR5095
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)nsv3546972
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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