A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438852



Internal ID22232562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63053824..63053824hg38UCSC Ensembl
chr1:63519495..63519495hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539874
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)nssv14438852
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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