A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983212



Internal ID56184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46398777..46400552hg38UCSC Ensembl
chr6:46366514..46368289hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381776
hg191776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454667
Supporting Variants
Samples
Known GenesRCAN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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