A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689344



Internal ID113010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77979013..77979873hg38UCSC Ensembl
chr12:78372793..78373653hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505050
Supporting Variants
Samples
Known GenesNAV3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689344
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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