A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489325



Internal ID266611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116424600..116424674hg38UCSC Ensembl
chr7:116064654..116064728hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001397
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489325
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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