A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000615



Internal ID67989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105376619..105547881hg38UCSC Ensembl
chr7:105017066..105188328hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38171263
hg19171263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485821
Supporting Variants
Samples
Known GenesPUS7, RINT1, SRPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000615
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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