A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052480



Internal ID18795011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19289336hg38UCSC Ensembl
Innerchr14:19002112..19877060hg19UCSC Ensembl
Innerchr14:18072112..18947060hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381063702
hg19874949
hg18874949
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1750n100
Supporting Variantsnssv3526837, nssv3713348, nssv3526840, nssv3526839, nssv3526838
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052480
Frequency
Sample Size29084
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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