A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684446



Internal ID108112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110730617..110731767hg38UCSC Ensembl
chr12:111168422..111169572hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381151
hg191151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143329
Supporting Variants
Samples
Known GenesPPP1CC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684446
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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