A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486201



Internal ID263572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44861389..44883078hg38UCSC Ensembl
chr10:45356837..45378526hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3821690
hg1921690
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17032799
Samples
Known GenesTMEM72-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486201
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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