A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056947



Internal ID105802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29052889..29074044hg38UCSC Ensembl
chr12:29205822..29226977hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3821156
hg1921156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510059
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056947
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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