A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207047



Internal ID20774087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74126560..74133935hg38UCSC Ensembl
chr2:74353687..74361062hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg387376
hg197376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6342147
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207047
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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