A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443832



Internal ID222219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207610587..207735587hg38UCSC Ensembl
chr1:207783932..207908932hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38125001
hg19125001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895016
Samples
Known GenesCR1, CR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443832
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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