A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14436480



Internal ID22179624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115654880..115654953hg38UCSC Ensembl
chr5:114990577..114990650hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3286068
Supporting Variants
SamplesHG00514
Known GenesLOC102467217
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)nssv14436480
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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