A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497361



Internal ID274400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110850066..110980043hg38UCSC Ensembl
chr12:111287870..111417847hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38129978
hg19129978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684456
Samples
Known GenesCCDC63, LOC100131138, MYL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497361
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer