A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475064



Internal ID21132617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46891982..46894063hg38UCSC Ensembl
chr12:47285765..47287846hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382082
hg192082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187418
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475064
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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