A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057600



Internal ID106253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55983740..55983995hg38UCSC Ensembl
chr12:56377524..56377779hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501003
Supporting Variants
Samples
Known GenesRAB5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057600
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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