A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6527101



Internal ID20900462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80425052..80428373hg38UCSC Ensembl
chr17:78398852..78402173hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383322
hg193322
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193415
Samples
Known GenesENDOV
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6527101
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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