A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196363



Internal ID20763403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122169562..122173530hg38UCSC Ensembl
chr12:122654109..122658077hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383969
hg193969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494979
Supporting Variants
Samples
Known GenesIL31, LRRC43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196363
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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