A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14436077



Internal ID22179196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59574063..59574119hg38UCSC Ensembl
chr5:58869889..58869945hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281015
Supporting Variants
SamplesHG00514
Known GenesPDE4D
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)nssv14436077
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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