A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287069



Internal ID22385469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143213604..143213660hg38UCSC Ensembl
chr8:144295479..144295535hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9428n152
Supporting Variantsnssv14439029
SamplesHG00514
Known GenesGPIHBP1
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)nsv3287069
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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