A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474396



Internal ID21131949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63348357..63685270hg38UCSC Ensembl
chr12:63742137..64079050hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38336914
hg19336914
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185056
Samples
Known GenesDPY19L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474396
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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