A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356321



Internal ID22581990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8608228..8608278hg38UCSC Ensembl
chr12:8760824..8760874hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5910946
Supporting Variants
Samples
Known GenesAICDA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356321
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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