A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505509



Internal ID20878780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3508213..3741501hg38UCSC Ensembl
chr16:3558213..3791502hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38233289
hg19233290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190066
Samples
Known GenesCLUAP1, CREBBP, DNASE1, NLRC3, SLX4, TRAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505509
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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