A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964677



Internal ID43758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31138919..31138970hg38UCSC Ensembl
chr5:31139026..31139077hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405839
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964677
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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