A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875284



Internal ID22650242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185447219..185449468hg38UCSC Ensembl
chr1:185416351..185418600hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382250
hg192250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358371
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875284
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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