A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17549053



Internal ID21873408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9426432..9426432hg38UCSC Ensembl
chr5:9426544..9426544hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381769
hg191769
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6062950
Supporting Variants
Samples
Known GenesSEMA5A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17549053
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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