A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501992



Internal ID278871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83636250..84060919hg38UCSC Ensembl
chr12:84030029..84454698hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38424670
hg19424670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689648
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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