A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17142471



Internal ID21439870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83059476..83059476hg38UCSC Ensembl
chr5:82355295..82355295hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg382416
hg192416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5637764
Supporting Variants
SamplesHG00732
Known GenesTMEM167A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17142471
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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