A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684319



Internal ID107985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108655905..108656218hg38UCSC Ensembl
chr12:109049681..109049994hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508648
Supporting Variants
Samples
Known GenesCORO1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684319
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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