A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5884863



Internal ID22659847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70116293..70117644hg38UCSC Ensembl
chr2:70343425..70344776hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381352
hg191352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404477
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5884863
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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