A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6522030



Internal ID20895391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48836782..48844575hg38UCSC Ensembl
chr17:46914144..46921937hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg387794
hg197794
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196171
Samples
Known GenesCALCOCO2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6522030
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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