A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058662



Internal ID106971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53331649..53331753hg38UCSC Ensembl
chr12:53725433..53725537hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496032
Supporting Variants
Samples
Known GenesSP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058662
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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