A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205626



Internal ID20772666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217782160..217832277hg38UCSC Ensembl
chr2:218646883..218697000hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3850118
hg1950118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339878
Supporting Variants
Samples
Known GenesTNS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205626
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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