A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459793



Internal ID22212333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92929295..92929375hg38UCSC Ensembl
chr14:93395640..93395720hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3283469
Supporting Variants
SamplesHG00733
Known GenesCHGA
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)nssv14459793
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