A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449613



Internal ID227846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74173829..74185977hg38UCSC Ensembl
chr2:74400956..74413104hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3812149
hg1912149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914092
Samples
Known GenesMOB1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449613
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer