A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442628



Internal ID15501347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:759943..764863hg38UCSC Ensembl
Innerchr12:869109..874029hg19UCSC Ensembl
Innerchr12:739370..744290hg18UCSC Ensembl
Innerchr12:739370..744290hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384921
hg194921
hg184921
hg174921
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1643741, nssv1643757, nssv1643747, nssv1643732, nssv1643736, nssv1643755, nssv1643742, nssv1643752, nssv1643740, nssv1643751, nssv1643746, nssv1643749, nssv1643743, nssv1643745, nssv1643756, nssv1643748, nssv1643739, nssv1643750, nssv1643733, nssv1643738, nssv1643754, nssv1643734, nssv1643744, nssv1643731, nssv1643753, nssv1643730, nssv1643735, nssv1643737
SamplesNA12717, NA11995, NA10851, NA12146, NA12750, NA12155, NA18563, NA12802, NA11992, NA18611, NA12815, NA10855, NA11993, NA18605, NA10831, NA12056, NA12145, NA12707, NA18945, NA18632, NA12716, NA10861, NA12740, NA10860, NA18521, NA18522, NA07034, NA11832
Known GenesWNK1
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)nsv442628
Frequency
Sample Size270
Observed Gain2
Observed Loss26
Observed Complex0
Frequencyn/a


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