A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403548



Internal ID22461418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32513233..32670988hg38UCSC Ensembl
chr2:32738300..32896055hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38157756
hg19157756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871066
Supporting Variants
Samples
Known GenesBIRC6, MIR4765, MIR558, TTC27
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403548
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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