A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483612



Internal ID261047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74308455..74308542hg38UCSC Ensembl
chr7:73722785..73722872hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000967
Samples
Known GenesCLIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483612
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer