A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964896



Internal ID22739831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229286426..229286426hg38UCSC Ensembl
chr1:229422173..229422173hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355090
Samples
Known GenesRAB4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964896
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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