A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983684



Internal ID56499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38902714..38902752hg38UCSC Ensembl
chr6:38870490..38870528hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535782
Supporting Variants
Samples
Known GenesDNAH8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983684
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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