A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690466



Internal ID114132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103445333..103453255hg38UCSC Ensembl
chr12:103839111..103847033hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg387923
hg197923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495867
Supporting Variants
Samples
Known GenesC12orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690466
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002655


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