A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483030



Internal ID15235504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:152301789..152497220hg38UCSC Ensembl
Innerchr3:152019578..152215009hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38195432
hg19195432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996045
Samples
Known GenesMBNL1, TMEM14E
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483030
Frequency
Sample Size39
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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