A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052848



Internal ID103081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9819640..9825440hg38UCSC Ensembl
chr12:9972236..9978036hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504954
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052848
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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