A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684950



Internal ID108616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121014125..121014426hg38UCSC Ensembl
chr12:121451928..121452229hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507397
Supporting Variants
Samples
Known GenesC12orf43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684950
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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