A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284094



Internal ID22382453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73575271..73575371hg38UCSC Ensembl
chr13:74149408..74149508hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2333n152
Supporting Variantsnssv14427212
SamplesHG00514
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)nsv3284094
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer