A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984973



Internal ID57371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87270339..87284128hg38UCSC Ensembl
chr6:87980057..87993846hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3813790
hg1913790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464330
Supporting Variants
Samples
Known GenesGJB7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984973
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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