A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5883130



Internal ID22658108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65121091..65122398hg38UCSC Ensembl
chr2:65348225..65349532hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381308
hg191308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401729
Samples
Known GenesRAB1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5883130
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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