A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487396



Internal ID264734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13015082..13015335hg38UCSC Ensembl
chr8:12872591..12872844hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007444
Samples
Known GenesKIAA1456
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487396
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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