A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446987



Internal ID22224342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:64609241..64609241hg38UCSC Ensembl
chr18:62276476..62276476hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543701
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14446987
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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