A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539961



Internal ID22409112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45497645..45497645hg38UCSC Ensembl
chr1:45963317..45963317hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440975, nssv14413606, nssv14375877
SamplesNA19240, HG00733, HG00514
Known GenesCCDC163P
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)nsv3539961
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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