A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889614



Internal ID22664633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240799182..240799241hg38UCSC Ensembl
chr2:241738599..241738658hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398143
Samples
Known GenesKIF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889614
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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