A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687769



Internal ID111435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52002607..52002609hg38UCSC Ensembl
chr13:52576743..52576745hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552217
Supporting Variants
Samples
Known GenesATP7B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687769
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.459101


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