A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495627



Internal ID272733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106518907..106519133hg38UCSC Ensembl
chr12:106912685..106912911hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690627
Samples
Known GenesLOC100287944
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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