A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205766



Internal ID20772806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101116743..101129243hg38UCSC Ensembl
chr2:101733205..101745705hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3812501
hg1912501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336906
Supporting Variants
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205766
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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