A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487003



Internal ID264352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102758779..102853000hg38UCSC Ensembl
chr7:102399226..102493447hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3894222
hg1994222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000232
Samples
Known GenesFAM185A, FBXL13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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