A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952440



Internal ID22727755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60567703..60567703hg38UCSC Ensembl
chr8:61480262..61480262hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436821
Samples
Known GenesRAB2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952440
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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