A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984771



Internal ID57233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44375613..44376603hg38UCSC Ensembl
chr6:44343350..44344340hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38991
hg19991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465671
Supporting Variants
Samples
Known GenesSPATS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984771
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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