A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6515896



Internal ID20889257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47308668..47313517hg38UCSC Ensembl
chr17:45386034..45390883hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg384850
hg194850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183776
Samples
Known GenesITGB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6515896
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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