A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009581



Internal ID74025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39195896..39254959hg38UCSC Ensembl
chr8:39053415..39112478hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3859064
hg1959064
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489141
Supporting Variants
Samples
Known GenesADAM32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009581
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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