A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493756



Internal ID270923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74794000..74799000hg38UCSC Ensembl
chr7:74208342..74213339hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg385001
hg194998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001009
Samples
Known GenesGTF2IRD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493756
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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