A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899442



Internal ID22674572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148881719..148881849hg38UCSC Ensembl
chr2:149639288..149639418hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403853
Samples
Known GenesKIF5C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899442
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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