A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485187



Internal ID21142740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122210640..122210822hg38UCSC Ensembl
chr12:122695187..122695369hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180089
Samples
Known GenesDIABLO
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485187
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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