A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484333



Internal ID21141886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120297045..120307802hg38UCSC Ensembl
chr12:120734848..120745605hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810758
hg1910758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182362
Samples
Known GenesSIRT4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484333
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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