A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488270



Internal ID265589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69878734..69985770hg38UCSC Ensembl
chr10:71638490..71745526hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38107037
hg19107037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035174
Samples
Known GenesCOL13A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488270
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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