A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684128



Internal ID107794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93315205..93318346hg38UCSC Ensembl
chr12:93708981..93712122hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383142
hg193142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494588
Supporting Variants
Samples
Known GenesLOC643339
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684128
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001561


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