A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207006



Internal ID20774046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70732382..70738468hg38UCSC Ensembl
chr2:70959514..70965600hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386087
hg196087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350582
Supporting Variants
Samples
Known GenesADD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207006
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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