A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469137



Internal ID246928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5792242..5898000hg38UCSC Ensembl
chr7:5831873..5937631hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38105759
hg19105759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991961
Samples
Known GenesOCM, ZNF815P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469137
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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