A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044575



Internal ID19133794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..22308242hg38UCSC Ensembl
Innerchr15:20585976..22681064hg19UCSC Ensembl
Innerchr15:18845990..20232428hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381927520
hg192095089
hg181386439
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2193n100
Supporting Variantsnssv3714717, nssv3538636, nssv3538618, nssv3538615, nssv3538624, nssv3538632, nssv3538619, nssv3538613, nssv3538644, nssv3714723, nssv3538645, nssv3538630, nssv3714719, nssv3538647, nssv3538642, nssv3714725, nssv3538621, nssv3714726, nssv3714724, nssv3538616, nssv3538638, nssv3538648, nssv3714722, nssv3538646, nssv3538639, nssv3538641, nssv3538622, nssv3538635, nssv3538628, nssv3714720, nssv3538631, nssv3714718, nssv3538633, nssv3538640, nssv3714721, nssv3538643, nssv3538627, nssv3538620, nssv3538625, nssv3538617, nssv3538614, nssv3538629, nssv3538637, nssv3538623, nssv3538634, nssv3538626
Samples
Known GenesCT60, 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)nsv1044575
Frequency
Sample Size11257
Observed Gain17
Observed Loss29
Observed Complex0
Frequencyn/a


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