A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554944



Internal ID22423793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62830651..62830651hg38UCSC Ensembl
chr20:61462003..61462003hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422665, nssv14450017
SamplesHG00733, HG00514
Known GenesCOL9A3
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)nsv3554944
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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