A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6497833



Internal ID20871041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48343444..48374934hg38UCSC Ensembl
chr16:48377355..48408845hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3831491
hg1931491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185895
Samples
Known GenesLOC100507577, LONP2, MIR548AE2, SIAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6497833
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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