A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442151



Internal ID15154184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69483652..69505204hg38UCSC Ensembl
Innerchr9:72098568..72120120hg19UCSC Ensembl
Innerchr9:71288388..71309940hg18UCSC Ensembl
Innerchr9:69328122..69349674hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3821553
hg1921553
hg1821553
hg1721553
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658864, nssv1658868, nssv1658866, nssv1658867, nssv1658869, nssv1658865, nssv1658870
SamplesNA10831, NA18863, NA18952, NA18953, NA18862, NA19140, NA12155
Known GenesAPBA1
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)nsv442151
Frequency
Sample Size270
Observed Gain4
Observed Loss3
Observed Complex0
Frequencyn/a


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