A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16283976



Internal ID20493194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9357138..9357138hg38UCSC Ensembl
chr5:9357250..9357250hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4750909
Supporting Variants
Samples
Known GenesSEMA5A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16283976
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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