A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909061



Internal ID6830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9484181..9484250hg38UCSC Ensembl
chr2:9624310..9624379hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450750
Supporting Variants
Samples
Known GenesIAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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