A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058296



Internal ID106733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52917901..52918232hg38UCSC Ensembl
chr12:53311685..53312016hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510835
Supporting Variants
Samples
Known GenesKRT8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058296
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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