A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17405387



Internal ID22463257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32282995..32282995hg38UCSC Ensembl
chr20:30870798..30870798hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970508
Supporting Variants
Samples
Known GenesKIF3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17405387
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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