A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442638



Internal ID15154671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27494808..27498429hg38UCSC Ensembl
Innerchr12:27647741..27651362hg19UCSC Ensembl
Innerchr12:27539008..27542629hg18UCSC Ensembl
Innerchr12:27539008..27542629hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg383622
hg193622
hg183622
hg173622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1644560, nssv1644564, nssv1644577, nssv1644571, nssv1644578, nssv1644570, nssv1644581, nssv1644576, nssv1644566, nssv1644563, nssv1644579, nssv1644559, nssv1644575, nssv1644572, nssv1644561, nssv1644573, nssv1644567, nssv1644568, nssv1644565, nssv1644574, nssv1644562, nssv1644558, nssv1644569, nssv1644580
SamplesNA12154, NA19152, NA19173, NA18516, NA18517, NA18855, NA19144, NA19143, NA19161, NA19239, NA12004, NA18515, NA19094, NA19154, NA10856, NA19141, NA19145, NA18857, NA12003, NA19160, NA11829, NA19171, NA19240, NA19092
Known GenesSMCO2
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)nsv442638
Frequency
Sample Size270
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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