A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684002



Internal ID107668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87985728..87987002hg38UCSC Ensembl
chr12:88379505..88380779hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg381275
hg191275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505413
Supporting Variants
Samples
Known GenesC12orf50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684002
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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