A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17411746



Internal ID22469616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147258153..147258153hg38UCSC Ensembl
chr5:146637716..146637716hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961659
Supporting Variants
Samples
Known GenesSTK32A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17411746
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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