A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484639



Internal ID262050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:121923416..121923491hg38UCSC Ensembl
chr7:121563470..121563545hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001774
Samples
Known GenesPTPRZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484639
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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