A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457466



Internal ID21115019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:299017..413126hg38UCSC Ensembl
chr12:408183..522292hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38114110
hg19114110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196435
Samples
Known GenesCCDC77, KDM5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457466
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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