A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464509



Internal ID21122062
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 StatusM
Merged Variants
Supporting Variantsnssv18180076
Samples
Known GenesIRAK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464509
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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