A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442589



Internal ID15154622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222843983..222850262hg38UCSC Ensembl
Innerchr1:223017325..223023604hg19UCSC Ensembl
Innerchr1:221083948..221090227hg18UCSC Ensembl
Innerchr1:219405720..219411999hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386280
hg196280
hg186280
hg176280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1619684, nssv1619675, nssv1619699, nssv1619706, nssv1619678, nssv1619676, nssv1619705, nssv1619687, nssv1619688, nssv1619679, nssv1619685, nssv1619695, nssv1619674, nssv1619681, nssv1619703, nssv1619677, nssv1619704, nssv1619683, nssv1619682, nssv1619698, nssv1619671, nssv1619692, nssv1619697, nssv1619673, nssv1619686, nssv1619702, nssv1619689, nssv1619701, nssv1619691, nssv1619672, nssv1619693, nssv1619669, nssv1619680, nssv1619696, nssv1619700, nssv1619690, nssv1619694, nssv1619670
SamplesNA10859, NA10831, NA11881, NA12249, NA12750, NA12801, NA18952, NA12875, NA07019, NA18994, NA18949, NA12865, NA12753, NA12004, NA11994, NA12155, NA10846, NA07345, NA07357, NA12762, NA12740, NA12761, NA11831, NA12751, NA12145, NA18572, NA12057, NA10851, NA12812, NA10835, NA10830, NA07022, NA12003, NA10838, NA12248, NA12236, NA12717, NA10861
Known GenesDISP1
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442589
Frequency
Sample Size270
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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