A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339438



Internal ID20996991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24710616..24914382hg38UCSC Ensembl
chr2:24933485..25137251hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38203767
hg19203767
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209105
Samples
Known GenesADCY3, CENPO, NCOA1, PTRHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339438
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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