A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280896



Internal ID22379212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154519723..154519821hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10362n152
Supporting Variantsnssv14373784, nssv14413757, nssv14439339
SamplesNA19240, HG00733, HG00514
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)nsv3280896
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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