A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500718



Internal ID277645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108823709..108823947hg38UCSC Ensembl
chr12:109217485..109217723hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684332
Samples
Known GenesSSH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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