A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465181



Internal ID243050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128993574..129000327hg38UCSC Ensembl
chr4:129914729..129921482hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg386754
hg196754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954786
Samples
Known GenesSCLT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465181
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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