A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531350



Internal ID22400710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65519326..65519326hg38UCSC Ensembl
chr2:65746460..65746460hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448177, nssv14394097, nssv14448178, nssv14394098
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3531350
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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