A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416335



Internal ID195562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174461655..174553343hg38UCSC Ensembl
chr1:174430793..174522481hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3891689
hg1991689
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892559
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416335
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