A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508931



Internal ID285604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78019530..78022614hg38UCSC Ensembl
chr13:78593665..78596749hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383085
hg193085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693233
Samples
Known GenesLINC00446
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508931
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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