A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6508663



Internal ID20881967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5159925..5165542hg38UCSC Ensembl
chr17:5063220..5068837hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg385618
hg195618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189324
Samples
Known GenesUSP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6508663
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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