A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6490504



Internal ID21148057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122213188..122214965hg38UCSC Ensembl
chr12:122697735..122699512hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381778
hg191778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998690
Samples
Known GenesDIABLO
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6490504
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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