A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971014



Internal ID48015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96660013..96660064hg38UCSC Ensembl
chr5:95995717..95995768hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405020
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971014
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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