A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019556



Internal ID80675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:514827..877566hg38UCSC Ensembl
chr9:514827..877566hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38362740
hg19362740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474568
Supporting Variants
Samples
Known GenesDMRT1, KANK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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