A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2789980



Internal ID15336508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:101055199..101057295hg38UCSC Ensembl
Innerchr13:101707551..101709647hg19UCSC Ensembl
Innerchr13:100505552..100507648hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg382097
hg192097
hg182097
Variant TypeCNV gain
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514687
Supporting Variants
SamplesNA18593
Known GenesNALCN, NALCN-AS1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2789980
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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