A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450017



Internal ID22245253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62830651..62830651hg38UCSC Ensembl
chr20:61462003..61462003hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3554944
Supporting Variants
SamplesHG00733
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)nssv14450017
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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