A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971228



Internal ID48166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143695895..143695946hg38UCSC Ensembl
chr6:144017032..144017083hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405568
Supporting Variants
Samples
Known GenesPHACTR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971228
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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