A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496149



Internal ID273233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16036614..16036856hg38UCSC Ensembl
chr12:16189548..16189790hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054358
Samples
Known GenesDERA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496149
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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