A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371808



Internal ID22597477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47675384..47675384hg38UCSC Ensembl
chr17:45752750..45752750hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970874
Supporting Variants
Samples
Known GenesKPNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371808
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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