A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441454



Internal ID219928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9196972..9198818hg38UCSC Ensembl
chr3:9238656..9240502hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg381847
hg191847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930794
Samples
Known GenesSRGAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441454
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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