A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530868



Internal ID20904229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68543889..68601219hg38UCSC Ensembl
chr17:66540030..66597360hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3857331
hg1957331
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186187
Samples
Known GenesFAM20A, PRKAR1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530868
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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