A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420783



Internal ID22478653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153566304..153566304hg38UCSC Ensembl
chr5:152945864..152945864hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957938
Supporting Variants
Samples
Known GenesGRIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420783
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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