A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053705



Internal ID19142924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..22308242hg38UCSC Ensembl
Innerchr15:20216943..22681064hg19UCSC Ensembl
Innerchr15:18476957..20232428hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382296553
hg192464122
hg181755472
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2193n100
Supporting Variantsnssv3538274, nssv3538265, nssv3538253, nssv3715833, nssv3538264, nssv3538255, nssv3538279, nssv3715831, nssv3538261, nssv3538260, nssv3715828, nssv3538269, nssv3715827, nssv3538277, nssv3715826, nssv3538262, nssv3538278, nssv3538258, nssv3715830, nssv3538280, nssv3538259, nssv3538257, nssv3538252, nssv3538272, nssv3538244, nssv3715829, nssv3538251, nssv3538273, nssv3537136, nssv3538266, nssv3715834, nssv3538254, nssv3538268, nssv3537135, nssv3715832, nssv3538270, nssv3538245, nssv3538250, nssv3538263, nssv3538248, nssv3538249, nssv3538276, nssv3538267, nssv3538271, nssv3538246, nssv3538275, nssv3538247, nssv3538256
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, 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)nsv1053705
Frequency
Sample Size11257
Observed Gain24
Observed Loss24
Observed Complex0
Frequencyn/a


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