A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479285



Internal ID256813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152113842..152564732hg38UCSC Ensembl
chr7:151810927..152261817hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38450891
hg19450891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17005742
Samples
Known GenesFABP5P3, GALNT11, KMT2C, LINC01003
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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