A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560260



Internal ID16347669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112925887..112928886hg38UCSC Ensembl
Innerchr12:113363692..113366691hg19UCSC Ensembl
Innerchr12:111848075..111851074hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383000
hg193000
hg183000
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802705, nssv802682, nssv802681, nssv802690, nssv802674, nssv802688, nssv802697, nssv802676, nssv802710, nssv802680, nssv802683, nssv802685, nssv802703, nssv802695, nssv802696, nssv802679, nssv802692, nssv802704, nssv802706, nssv802709, nssv802678, nssv802708, nssv802677, nssv802689, nssv802701, nssv802700, nssv802693, nssv802699, nssv802675, nssv802694, nssv802691, nssv802698, nssv802687, nssv802686, nssv802684, nssv802707, nssv802702
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560260
Frequency
Sample Size17421
Observed Gain2
Observed Loss35
Observed Complex0
Frequencyn/a


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