A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422028



Internal ID201083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93176909..93187764hg38UCSC Ensembl
chr1:93642466..93653321hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3810856
hg1910856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906684
Samples
Known GenesCCDC18, TMED5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422028
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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