A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531321



Internal ID20904682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61981221..62425637hg38UCSC Ensembl
chr17:60058582..60502998hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38444417
hg19444417
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178090
Samples
Known GenesEFCAB3, MED13, METTL2A, TBC1D3P2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531321
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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