A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205484



Internal ID20772524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135759258..135807739hg38UCSC Ensembl
chr2:136516828..136565309hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3848482
hg1948482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350816
Supporting Variants
Samples
Known GenesLCT, UBXN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205484
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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