A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730048



Internal ID153714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181535912..181535990hg38UCSC Ensembl
chr2:182400639..182400717hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444205
Supporting Variants
Samples
Known GenesITGA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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