A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205401



Internal ID20772441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188318095..188372185hg38UCSC Ensembl
chr2:189182822..189236912hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3854091
hg1954091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337890
Supporting Variants
Samples
Known GenesGULP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205401
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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