A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547258



Internal ID321124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135452298..135452322hg38UCSC Ensembl
chr7:135137046..135137070hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003691
Samples
Known GenesCNOT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547258
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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