A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17034043



Internal ID90393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:63146145..63146196hg38UCSC Ensembl
chr10:64905905..64905956hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410127
Supporting Variants
Samples
Known GenesNRBF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17034043
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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