A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6517213



Internal ID20890574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76012912..76062933hg38UCSC Ensembl
chr17:74008993..74059014hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3850022
hg1950022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178216
Samples
Known GenesEVPL, SRP68
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6517213
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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