A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446747



Internal ID225066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177310555..177311451hg38UCSC Ensembl
chr2:178175283..178176179hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921138
Samples
Known GenesLOC100130691
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446747
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