A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206915



Internal ID20773955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37918801..37984200hg38UCSC Ensembl
chr2:38145944..38211343hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3865400
hg1965400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6347953
Supporting Variants
Samples
Known GenesRMDN2, RMDN2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206915
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00066


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