A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055372



Internal ID104752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43999721..44008574hg38UCSC Ensembl
chr12:44393524..44402377hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg388854
hg198854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500193
Supporting Variants
Samples
Known GenesTMEM117
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055372
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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