A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442148



Internal ID15500867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:41267181..41533430hg38UCSC Ensembl
Innerchr9:45350204..45616519hg19UCSC Ensembl
Innerchr9:45240200..45506515hg18UCSC Ensembl
Innerchr9:44201128..44555455hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38266250
hg19266316
hg18266316
hg17354328
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658849, nssv1658852, nssv1658851, nssv1658853, nssv1658847, nssv1658850, nssv1658848
SamplesNA18508, NA18563, NA12878, NA12892, NA19240, NA18992, NA18943
Known Genes
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)nsv442148
Frequency
Sample Size270
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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