A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484435



Internal ID261847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75108700..75127600hg38UCSC Ensembl
chr7:74524492..74543401hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3818901
hg1918910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001058
Samples
Known GenesGTF2IRD2, GTF2IRD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484435
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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