A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480092



Internal ID257603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45728225..45728294hg38UCSC Ensembl
chr7:45767824..45767893hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995787
Samples
Known GenesSEPT7P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480092
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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