A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505525



Internal ID20878796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70345330..70402035hg38UCSC Ensembl
chr16:70379233..70435938hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3856706
hg1956706
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196855
Samples
Known GenesDDX19A, LOC100506083, ST3GAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505525
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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