A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511708



Internal ID20885038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50023201..50028300hg38UCSC Ensembl
chr16:50057112..50062211hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186260
Samples
Known GenesCNEP1R1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511708
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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