A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500890



Internal ID20874120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2678032..2894051hg38UCSC Ensembl
chr17:2581326..2797345hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38216020
hg19216020
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189591
Samples
Known GenesCLUH, MIR1253, MIR6776, PAFAH1B1, RAP1GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500890
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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