A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469112



Internal ID21126665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54926172..54993313hg38UCSC Ensembl
chr12:55319956..55387097hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3867142
hg1967142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187396
Samples
Known GenesTESPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469112
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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