A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690378



Internal ID114044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101757607..101760029hg38UCSC Ensembl
chr12:102151385..102153807hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382423
hg192423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495242
Supporting Variants
Samples
Known GenesGNPTAB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690378
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001251


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