A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971019



Internal ID48018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96715764..96715815hg38UCSC Ensembl
chr5:96051468..96051519hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405272
Supporting Variants
Samples
Known GenesCAST
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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