A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6459217



Internal ID21116770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8781101..8851000hg38UCSC Ensembl
chr12:8933697..9003596hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3869900
hg1969900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185693
Samples
Known GenesA2ML1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6459217
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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