A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053288



Internal ID18795819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34403109..34538731hg38UCSC Ensembl
Innerchr15:34695310..34830932hg19UCSC Ensembl
Innerchr15:32482602..32618224hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38135623
hg19135623
hg18135623
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2558n100
Supporting Variantsnssv3548707, nssv3548719, nssv3548742, nssv3721696, nssv3721701, nssv3548698, nssv3721697, nssv3548734, nssv3721702, nssv3721711, nssv3548710, nssv3548721, nssv3548718, nssv3721712, nssv3548722, nssv3721708, nssv3548736, nssv3548737, nssv3548732, nssv3548708, nssv3548715, nssv3721699, nssv3548709, nssv3548744, nssv3548733, nssv3548704, nssv3548700, nssv3548729, nssv3548735, nssv3721706, nssv3548746, nssv3548714, nssv3721700, nssv3548738, nssv3548706, nssv3548728, nssv3721695, nssv3548713, nssv3548743, nssv3548727, nssv3721704, nssv3548725, nssv3548749, nssv3721698, nssv3548701, nssv3548739, nssv3548703, nssv3548711, nssv3548745, nssv3548747, nssv3548699, nssv3548723, nssv3548720, nssv3721703, nssv3548724, nssv3548731, nssv3548730, nssv3548705, nssv3721710, nssv3548741, nssv3548716, nssv3548748, nssv3548740, nssv3721707, nssv3548717, nssv3721705, nssv3721709, nssv3721694, nssv3548726, nssv3548712, nssv3548697, nssv3548702
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)nsv1053288
Frequency
Sample Size29084
Observed Gain11
Observed Loss61
Observed Complex0
Frequencyn/a


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