A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868531



Internal ID22643466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65097022..65097072hg38UCSC Ensembl
chr2:65324156..65324206hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399691
Samples
Known GenesRAB1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868531
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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