A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054625



Internal ID104251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4328612..4329339hg38UCSC Ensembl
chr12:4437778..4438505hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38728
hg19728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510503
Supporting Variants
Samples
Known GenesC12orf5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054625
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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