A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054684



Internal ID104285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6538000..6544000hg38UCSC Ensembl
chr12:6647166..6653166hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143597
Supporting Variants
Samples
Known GenesGAPDH, IFFO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054684
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.014771


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