A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2813024



Internal ID21258362
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 StatusM
Merged Variants
Supporting Variantsnssv13711169, nssv13707467
Samples
Known GenesSEMA5A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2813024
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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