A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992478



Internal ID62449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4763329..4870597hg38UCSC Ensembl
chr7:4802960..4910228hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38107269
hg19107269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465505
Supporting Variants
Samples
Known GenesAP5Z1, FOXK1, MIR4656, PAPOLB, RADIL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992478
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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