A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984655



Internal ID57155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40453873..40453964hg38UCSC Ensembl
chr6:40421612..40421703hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472660
Supporting Variants
Samples
Known GenesLRFN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984655
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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