A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054423



Internal ID104117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16985720..16985807hg38UCSC Ensembl
chr12:17138654..17138741hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500214
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054423
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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