A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904346



Internal ID22679523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112534111..112541182hg38UCSC Ensembl
chr2:113291688..113298759hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg387072
hg197072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395904
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904346
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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