A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519649



Internal ID295997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85688015..85688498hg38UCSC Ensembl
chr16:85721621..85722104hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708349
Samples
Known GenesGINS2, MIR7851
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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