A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17029230



Internal ID87184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12167249..12167300hg38UCSC Ensembl
chr10:12209248..12209299hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413186
Supporting Variants
Samples
Known GenesSEC61A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17029230
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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