A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058629



Internal ID106949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53103055..53110474hg38UCSC Ensembl
chr12:53496839..53504258hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg387420
hg197420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501013
Supporting Variants
Samples
Known GenesSOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058629
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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