A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14460958



Internal ID22213523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58599024..58599112hg38UCSC Ensembl
chr20:57174080..57174168hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214079
Supporting Variants
SamplesHG00733
Known GenesAPCDD1L-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14460958
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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