A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206253



Internal ID20773293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234133608..235798435hg38UCSC Ensembl
chr2:235042252..236707079hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381664828
hg191664828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348858
Supporting Variants
Samples
Known GenesAGAP1, ARL4C, SH3BP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206253
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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