A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886248



Internal ID22661234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211879981..211880247hg38UCSC Ensembl
chr1:212053323..212053589hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366146
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886248
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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