A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395778



Internal ID22453648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106069152..106069216hg38UCSC Ensembl
chr2:106685608..106685672hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885050
Supporting Variants
Samples
Known GenesC2orf40
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395778
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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