A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462276



Internal ID21119829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63648401..63694500hg38UCSC Ensembl
chr12:64042181..64088280hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3846100
hg1946100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1564n223
Supporting Variantsnssv18196248
Samples
Known GenesDPY19L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462276
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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