A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906684



Internal ID5237
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 StatusS
Merged Variantsnsv5422028
Supporting Variants
Samples
Known GenesCCDC18, TMED5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906684
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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