A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468630



Internal ID21126183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51079519..51080068hg38UCSC Ensembl
chr12:51473302..51473851hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188275
Samples
Known GenesCSRNP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468630
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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