A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194611



Internal ID20761651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36108001..36187300hg38UCSC Ensembl
chr17:34435394..34514676hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3879300
hg1979283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497463
Supporting Variants
Samples
Known GenesTBC1D3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194611
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.16587


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