A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16985421



Internal ID57688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:93311972..93315420hg38UCSC Ensembl
chr6:94021690..94025138hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg383449
hg193449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459610
Supporting Variants
Samples
Known GenesEPHA7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16985421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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