A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546954



Internal ID22415934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63028720..63028720hg38UCSC Ensembl
chr20:61660072..61660072hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422674, nssv14395593, nssv14450029
SamplesNA19240, HG00733, HG00514
Known GenesLOC63930
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3546954
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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