A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451594



Internal ID229772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8239269..8239379hg38UCSC Ensembl
chr4:8240996..8241106hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16945831
Samples
Known GenesSH3TC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451594
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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