A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899859



Internal ID22674994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241078122..241078850hg38UCSC Ensembl
chr2:242017537..242018265hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405888
Samples
Known GenesSNED1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899859
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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