A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5907422



Internal ID22682631
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 StatusM
Merged Variants
Supporting Variantsnssv17406592
Samples
Known GenesC2orf83
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5907422
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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