A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056857



Internal ID105742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47977911..47977968hg38UCSC Ensembl
chr12:48371694..48371751hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509178
Supporting Variants
Samples
Known GenesCOL2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056857
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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