A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480960



Internal ID258456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74824779..74832750hg38UCSC Ensembl
chr7:74239305..74247873hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387972
hg198569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001018
Samples
Known GenesGTF2IRD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480960
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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