A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497099



Internal ID274155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6506000..6515500hg38UCSC Ensembl
chr12:6615166..6624666hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg389501
hg199501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054678
Samples
Known GenesNCAPD2, SCARNA10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497099
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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