A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442540



Internal ID15501259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:28047590..28050693hg38UCSC Ensembl
Innerchr9:28047588..28050691hg19UCSC Ensembl
Innerchr9:28037588..28040691hg18UCSC Ensembl
Innerchr9:28037588..28040691hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg383104
hg193104
hg183104
hg173104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1638894, nssv1638899, nssv1638909, nssv1638903, nssv1638898, nssv1638902, nssv1638905, nssv1638892, nssv1638904, nssv1638893, nssv1638901, nssv1638896, nssv1638908, nssv1638911, nssv1638895, nssv1638907, nssv1638906, nssv1638900, nssv1638910, nssv1638897
SamplesNA18561, NA18603, NA19098, NA18969, NA19005, NA10846, NA18547, NA19138, NA19159, NA12144, NA18858, NA18945, NA18974, NA18632, NA18952, NA19100, NA19144, NA19193, NA12874, NA19139
Known GenesLINGO2
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)nsv442540
Frequency
Sample Size270
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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