A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053750



Internal ID19142969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18559262..19265122hg38UCSC Ensembl
Innerchr14:19335739..19852821hg19UCSC Ensembl
Innerchr14:18405739..18922821hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38705861
hg19517083
hg18517083
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1754n100
Supporting Variantsnssv3526947, nssv3713383, nssv3526948
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)nsv1053750
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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