A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186352



Internal ID20753393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113151257..113155024hg38UCSC Ensembl
chr12:113589062..113592829hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383768
hg193768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487122
Supporting Variants
Samples
Known GenesCCDC42B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186352
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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