A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058392



Internal ID106794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39648899..39747260hg38UCSC Ensembl
chr12:40042701..40141062hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3898362
hg1998362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511028
Supporting Variants
Samples
Known GenesC12orf40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058392
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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