A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983314



Internal ID56253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53282874..53283299hg38UCSC Ensembl
chr6:53147672..53148097hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460315
Supporting Variants
Samples
Known GenesELOVL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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