A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500162



Internal ID277104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:7533317..7533384hg38UCSC Ensembl
chr11:7554548..7554615hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041795
Samples
Known GenesPPFIBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500162
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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