A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983686



Internal ID56500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38946077..38946128hg38UCSC Ensembl
chr6:38913853..38913904hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395719
Supporting Variants
Samples
Known GenesDNAH8, LOC100131047
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983686
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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