A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281619



Internal ID22379945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73901533..73901583hg38UCSC Ensembl
chr2:74128660..74128710hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14433393
SamplesHG00514
Known GenesACTG2
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)nsv3281619
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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