A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6495597



Internal ID20868791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48222083..48273115hg38UCSC Ensembl
chr16:48255994..48307026hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3851033
hg1951033
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195930
Samples
Known GenesABCC11, LONP2, MIR548AE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6495597
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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