A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180076



Internal ID20747116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66172101..66195900hg38UCSC Ensembl
chr12:66565881..66589680hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3823800
hg1923800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464509
Supporting Variants
Samples
Known GenesIRAK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180076
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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