A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438258



Internal ID22181387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23111835..23111888hg38UCSC Ensembl
chr10:23400764..23400817hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3284673
Supporting Variants
SamplesHG00514
Known GenesMSRB2
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)nssv14438258
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