A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475813



Internal ID21133366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126460641..126461451hg38UCSC Ensembl
chr12:126945187..126945997hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189561
Samples
Known GenesLOC100128554
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475813
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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