A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487983



Internal ID265305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74580515..74585556hg38UCSC Ensembl
chr7:73994844..73999885hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg385042
hg195042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000989
Samples
Known GenesGTF2IRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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