A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206120



Internal ID20773160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226830001..226838000hg38UCSC Ensembl
chr2:227694717..227702716hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349261
Supporting Variants
Samples
Known GenesRHBDD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206120
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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