A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280027



Internal ID22378334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83692949..83693074hg38UCSC Ensembl
chr4:84614102..84614227hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6712n152
Supporting Variantsnssv14411214
SamplesNA19240
Known Genes
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)nsv3280027
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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