A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983728



Internal ID56527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70767580..70767631hg38UCSC Ensembl
chr6:71477283..71477334hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406748
Supporting Variants
Samples
Known GenesSMAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004527


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