A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057601



Internal ID106254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55990128..55996128hg38UCSC Ensembl
chr12:56383912..56389912hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144048
Supporting Variants
Samples
Known GenesRAB5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00063


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