A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285234



Internal ID22383609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74713232..74713320hg38UCSC Ensembl
chr15:75005573..75005661hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2989n152
Supporting Variantsnssv14461854
SamplesHG00733
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)nsv3285234
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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