A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500706



Internal ID277633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55462495..55474739hg38UCSC Ensembl
chr12:55856279..55868523hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3812245
hg1912245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056596
Samples
Known GenesOR6C70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500706
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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