A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612868



Internal ID16400277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143618479..143632493hg38UCSC Ensembl
Innerchr8:144700649..144714663hg19UCSC Ensembl
Innerchr8:144771792..144785806hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3814015
hg1914015
hg1814015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12427n54
Supporting Variantsnssv1125643, nssv1125627, nssv1125615, nssv1125612, nssv1125670, nssv1125632, nssv1125682, nssv1125640, nssv1125639, nssv1125638, nssv1125624, nssv1125668, nssv1125677, nssv1125655, nssv1125637, nssv1125633, nssv1125609, nssv1125662, nssv1125673, nssv1125642, nssv1125616, nssv1125648, nssv1125635, nssv1125653, nssv1125623, nssv1125660, nssv1125625, nssv1125656, nssv1125634, nssv1125657, nssv1125619, nssv1125663, nssv1125626, nssv1125607, nssv1125674, nssv1125678, nssv1125620, nssv1125661, nssv1125629, nssv1125667, nssv1125679, nssv1125675, nssv1125647, nssv1125611, nssv1125621, nssv1125659, nssv1125617, nssv1125613, nssv1125651, nssv1125631, nssv1125614, nssv1125636, nssv1125610, nssv1125652, nssv1125665, nssv1125654, nssv1125649, nssv1125671, nssv1125680, nssv1125683, nssv1125664, nssv1125650, nssv1125645, nssv1125658, nssv1125606, nssv1125684, nssv1125618, nssv1125669, nssv1125646, nssv1125622, nssv1125676, nssv1125666, nssv1125644, nssv1125681, nssv1125630, nssv1125628, nssv1125641, nssv1125608, nssv1125672, nssv1125605
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612868
Frequency
Sample Size17421
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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