A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970809



Internal ID47872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135951314..135964728hg38UCSC Ensembl
chr6:136272452..136285866hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3813415
hg1913415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456631
Supporting Variants
Samples
Known GenesPDE7B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970809
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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