A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463245



Internal ID21120798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101813808..101822205hg38UCSC Ensembl
chr12:102207586..102215983hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg388398
hg198398
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186793
Samples
Known GenesGNPTAB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463245
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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