A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473571



Internal ID21131124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41421441..41454007hg38UCSC Ensembl
chr12:41815243..41847809hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3832567
hg1932567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177808
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473571
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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