A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281141



Internal ID22379461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240440535..240440640hg38UCSC Ensembl
chr2:241379952..241380057hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408804
SamplesNA19240
Known GenesGPC1
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)nsv3281141
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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