A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511795



Internal ID20885125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30384001..30392300hg38UCSC Ensembl
chr16:30395322..30403621hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388300
hg198300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190224
Samples
Known GenesZNF48
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511795
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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