A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482382



Internal ID21139935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131581301..132223300hg38UCSC Ensembl
chr12:132065846..132706992hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38642000
hg19641147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1744n223
Supporting Variantsnssv18191575
Samples
Known GenesDDX51, EP400, EP400NL, GALNT9, MMP17, NOC4L, PUS1, SFSWAP, SNORA49, ULK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482382
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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