A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894291



Internal ID22669363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126708034..126708226hg38UCSC Ensembl
chr2:127465610..127465802hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390694
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894291
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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