A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503347



Internal ID20876601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1763672..1867909hg38UCSC Ensembl
chr16:1813673..1917910hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38104238
hg19104238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185120
Samples
Known GenesEME2, FAHD1, HAGH, IGFALS, MAPK8IP3, MEIOB, MRPS34, NME3, NUBP2, SPSB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503347
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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