A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056576



Internal ID105541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55310668..55331605hg38UCSC Ensembl
chr12:55704452..55725389hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3820938
hg1920938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504083
Supporting Variants
Samples
Known GenesOR6C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056576
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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