A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531497



Internal ID22400849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127981352..127981352hg38UCSC Ensembl
chr2:128738926..128738926hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449721, nssv14394567, nssv14420685
SamplesNA19240, HG00733, HG00514
Known GenesSAP130
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)nsv3531497
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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