A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287739



Internal ID22386146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120798368..120798484hg38UCSC Ensembl
chr10:122557880..122557996hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1079n152
Supporting Variantsnssv14381283
SamplesNA19240
Known GenesMIR5694, WDR11-AS1
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)nsv3287739
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