A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684878



Internal ID108544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120048274..120048367hg38UCSC Ensembl
chr12:120486078..120486171hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510369
Supporting Variants
Samples
Known GenesCCDC64
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684878
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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