A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505437



Internal ID20878706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14617901..14647200hg38UCSC Ensembl
chr16:14711758..14741057hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3829300
hg1929300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186696
Samples
Known GenesBFAR, PARN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505437
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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