A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205415



Internal ID20772455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189782501..189788500hg38UCSC Ensembl
chr2:190647227..190653226hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339620
Supporting Variants
Samples
Known GenesORMDL1, PMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205415
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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