A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533651



Internal ID22402956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172571967..172571967hg38UCSC Ensembl
chr1:172541107..172541107hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440695, nssv14380218
SamplesNA19240, HG00733
Known GenesSUCO
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)nsv3533651
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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