A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042080



Internal ID19131299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19101627..19955201hg38UCSC Ensembl
Innerchr14:19689305..20423360hg19UCSC Ensembl
Innerchr14:18759305..19493200hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38853575
hg19734056
hg18733896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3529725, nssv3529728, nssv3529744, nssv3529715, nssv3529743, nssv3529719, nssv3529713, nssv3529736, nssv3529740, nssv3529735, nssv3529755, nssv3529751, nssv3529730, nssv3529750, nssv3529717, nssv3529733, nssv3711061, nssv3711058, nssv3529741, nssv3529720, nssv3529716, nssv3529722, nssv3711057, nssv3711059, nssv3711060, nssv3529712, nssv3529742, nssv3529747, nssv3529732, nssv3529753, nssv3529724, nssv3529731, nssv3529726, nssv3529734, nssv3529738, nssv3529711, nssv3529718, nssv3529723, nssv3529745, nssv3529721, nssv3529710, nssv3529737, nssv3529754, nssv3529749, nssv3711056, nssv3529729, nssv3529752, nssv3529739, nssv3529714, nssv3529746, nssv3529727, nssv3529748
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042080
Frequency
Sample Size11257
Observed Gain52
Observed Loss0
Observed Complex0
Frequencyn/a


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