A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6466943



Internal ID21124496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39395789..39831725hg38UCSC Ensembl
chr12:39789591..40225527hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38435937
hg19435937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195438
Samples
Known GenesABCD2, C12orf40, KIF21A, SLC2A13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6466943
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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