A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909981



Internal ID7431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10187200..10248921hg38UCSC Ensembl
chr2:10327326..10389047hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3861722
hg1961722
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434603
Supporting Variants
Samples
Known GenesC2orf48, MIR4261
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909981
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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