A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023396



Internal ID83311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72641375..72646604hg38UCSC Ensembl
chr9:75256291..75261520hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg385230
hg195230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487774
Supporting Variants
Samples
Known GenesTMC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023396
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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