A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508456



Internal ID285145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119859324..119859550hg38UCSC Ensembl
chr10:121618836..121619062hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17039363
Samples
Known GenesMCMBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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