A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207399



Internal ID20774440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170976630..171063094hg38UCSC Ensembl
chr2:171833140..171919604hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3886465
hg1986465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6340670
Supporting Variants
Samples
Known GenesTLK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207399
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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