A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891178



Internal ID22666213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112590063..112593282hg38UCSC Ensembl
chr2:113347640..113350859hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg383220
hg193220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391276
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891178
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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