A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054859



Internal ID19144078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20283071..22300068hg38UCSC Ensembl
Innerchr15:20488324..22588019hg19UCSC Ensembl
Innerchr15:18748338..20089383hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382016998
hg192099696
hg181341046
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2191n100
Supporting Variantsnssv3713699, nssv3536045, nssv3536046, nssv3536043, nssv3536041, nssv3536044, nssv3536047, nssv3536048, nssv3536040, nssv3713698, nssv3536042, nssv3713697, nssv3713700, nssv3536049
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054859
Frequency
Sample Size11257
Observed Gain9
Observed Loss5
Observed Complex0
Frequencyn/a


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