A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435175



Internal ID213828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9487480..9487550hg38UCSC Ensembl
chr2:9627609..9627679hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909062
Samples
Known GenesIAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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