A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287900



Internal ID22386308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132028551..132028618hg38UCSC Ensembl
chr8:133040798..133040865hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9351n152
Supporting Variantsnssv14388709
SamplesNA19240
Known GenesOC90
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)nsv3287900
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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