A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281786



Internal ID22380113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41635534..41635616hg38UCSC Ensembl
chr1:42101205..42101287hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv194n152
Supporting Variantsnssv14421685, nssv14397033
SamplesNA19240, HG00514
Known GenesHIVEP3
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)nsv3281786
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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