A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505949



Internal ID282709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41758476..41824021hg38UCSC Ensembl
chr15:42050674..42116219hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3865546
hg1965546
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17701154
Samples
Known GenesMAPKBP1, MGA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505949
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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