A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023245



Internal ID83218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69710242..69711717hg38UCSC Ensembl
chr9:72325158..72326633hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg381476
hg191476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481117
Supporting Variants
Samples
Known GenesPTAR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023245
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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