A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054681



Internal ID104282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6522000..6530000hg38UCSC Ensembl
chr12:6631166..6639166hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143107
Supporting Variants
Samples
Known GenesNCAPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054681
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001275


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