A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048728



Internal ID18791259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34403109..34570510hg38UCSC Ensembl
Innerchr15:34695310..34862711hg19UCSC Ensembl
Innerchr15:32482602..32650003hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38167402
hg19167402
hg18167402
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2559n100
Supporting Variantsnssv3548830, nssv3548818, nssv3548832, nssv3548802, nssv3548822, nssv3548825, nssv3548840, nssv3548808, nssv3548829, nssv3548841, nssv3548824, nssv3548838, nssv3721733, nssv3548837, nssv3721732, nssv3548812, nssv3548803, nssv3721730, nssv3548809, nssv3548806, nssv3548831, nssv3548811, nssv3721729, nssv3548813, nssv3548826, nssv3548810, nssv3548833, nssv3548828, nssv3721731, nssv3548800, nssv3548835, nssv3548827, nssv3548805, nssv3548804, nssv3548815, nssv3548820, nssv3548821, nssv3548819, nssv3548816, nssv3548807, nssv3548817, nssv3548834, nssv3548801, nssv3548839, nssv3548836, nssv3548814, nssv3548823
Samples
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048728
Frequency
Sample Size29084
Observed Gain9
Observed Loss38
Observed Complex0
Frequencyn/a


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