A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931322



Internal ID22706604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49811733..49819271hg38UCSC Ensembl
chr12:50205516..50213054hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg387539
hg197539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361273
Samples
Known GenesNCKAP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931322
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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