A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953135



Internal ID36107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80075257..80075456hg38UCSC Ensembl
chr4:80996411..80996610hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454487
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16953135
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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