A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485644



Internal ID263030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30281987..30285125hg38UCSC Ensembl
chr8:30139503..30142641hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383139
hg193139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009292
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485644
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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