A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206128



Internal ID20773168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227282133..227329315hg38UCSC Ensembl
chr2:228146849..228194031hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3847183
hg1947183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344990
Supporting Variants
Samples
Known GenesCOL4A3, LOC654841, MFF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206128
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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