A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057574



Internal ID106235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54209000..54214128hg38UCSC Ensembl
chr12:54602784..54607912hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg385129
hg195129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143500
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057574
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000783


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