A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406592



Internal ID22464462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227611420..227611838hg38UCSC Ensembl
chr2:228476136..228476554hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5907422
Supporting Variants
Samples
Known GenesC2orf83
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406592
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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