A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496717



Internal ID273787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69738707..69738775hg38UCSC Ensembl
chr12:70132487..70132555hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688888
Samples
Known GenesRAB3IP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496717
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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