A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177808



Internal ID20744848
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 StatusS
Merged Variantsnsv6473571
Supporting Variants
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177808
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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