A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463857



Internal ID21121410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:466659..650850hg38UCSC Ensembl
chr12:575825..760016hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38184192
hg19184192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182682
Samples
Known GenesB4GALNT3, NINJ2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463857
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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