A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892385



Internal ID22667435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228485235..228556774hg38UCSC Ensembl
chr2:229349951..229421490hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3871540
hg1971540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407349
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892385
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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