A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690031



Internal ID113697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92906371..92909367hg38UCSC Ensembl
chr12:93300147..93303143hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382997
hg192997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494080
Supporting Variants
Samples
Known GenesEEA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690031
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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