A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456752



Internal ID21114305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6445524..6450910hg38UCSC Ensembl
chr12:6554690..6560076hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385387
hg195387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180679
Samples
Known GenesCD27, CD27-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6456752
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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