A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685003



Internal ID108669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121659639..121666640hg38UCSC Ensembl
chr12:122097545..122104546hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg387002
hg197002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503051
Supporting Variants
Samples
Known GenesMORN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685003
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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