A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054177



Internal ID18796708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19032352hg38UCSC Ensembl
Innerchr14:19002112..19620039hg19UCSC Ensembl
Innerchr14:18072112..18690039hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38806718
hg19617928
hg18617928
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1750n100
Supporting Variantsnssv3526807, nssv3526810, nssv3526809, nssv3526812, nssv3526808, nssv3526811
Samples
Known GenesLOC642426, 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)nsv1054177
Frequency
Sample Size29084
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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