A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474008



Internal ID21131561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18062581..18120620hg38UCSC Ensembl
chr12:18215515..18273554hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3858040
hg1958040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999420
Samples
Known GenesRERGL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474008
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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