A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13707467



Internal ID21229259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9353328..9353328hg38UCSC Ensembl
chr5:9353440..9353440hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2813024
Supporting Variants
Samples
Known GenesSEMA5A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13707467
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.71875


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