A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506972



Internal ID283703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123183047..123185195hg38UCSC Ensembl
chr10:124942563..124944711hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg382149
hg192149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040419
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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