A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953060



Internal ID22728356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206075039..206075039hg38UCSC Ensembl
chr2:206939763..206939763hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393979
Samples
Known GenesINO80D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953060
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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