A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17525263



Internal ID21849621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127514706..127518861hg38UCSC Ensembl
chr2:128272282..128276437hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg384156
hg194156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5986124
Supporting Variants
Samples
Known GenesIWS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17525263
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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