A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556233



Internal ID329374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174386495..174386546hg38UCSC Ensembl
chr2:175251223..175251274hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921088
Samples
Known GenesCIR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556233
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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