A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17381683



Internal ID22439553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47664406..47664406hg38UCSC Ensembl
chr15:47956603..47956603hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975702
Supporting Variants
Samples
Known GenesSEMA6D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17381683
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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