A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207385



Internal ID20774426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169509482..169571010hg38UCSC Ensembl
chr2:170365992..170427520hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3861529
hg1961529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6347452
Supporting Variants
Samples
Known GenesFASTKD1, KLHL41
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207385
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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