A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683954



Internal ID107620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78062592..78062642hg38UCSC Ensembl
chr12:78456372..78456422hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497738
Supporting Variants
Samples
Known GenesNAV3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683954
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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