A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047407



Internal ID18789938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32247324..32584771hg38UCSC Ensembl
Innerchr15:32539525..32876972hg19UCSC Ensembl
Innerchr15:30326817..30664264hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38337448
hg19337448
hg18337448
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2544n100
Supporting Variantsnssv3721649, nssv3547831, nssv3547826, nssv3547836, nssv3547825, nssv3547827, nssv3547835, nssv3547832, nssv3547829, nssv3721652, nssv3547830, nssv3721653, nssv3721650, nssv3721651, nssv3547828, nssv3547823, nssv3547824, nssv3721648, nssv3547834, nssv3721647, nssv3547833
Samples
Known GenesGOLGA8K, GOLGA8O, LOC100996255, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047407
Frequency
Sample Size29084
Observed Gain2
Observed Loss19
Observed Complex0
Frequencyn/a


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