A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542472



Internal ID22411549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46776332..46776332hg38UCSC Ensembl
chr1:47242004..47242004hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440983, nssv14440984
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)nsv3542472
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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