A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475408



Internal ID253044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117713487..117744609hg38UCSC Ensembl
chr7:117353541..117384663hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3831123
hg1931123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001710
Samples
Known GenesCTTNBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475408
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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