A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442554



Internal ID15154587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69420277..69434112hg38UCSC Ensembl
Innerchr9:72035193..72049028hg19UCSC Ensembl
Innerchr9:71225013..71238848hg18UCSC Ensembl
Innerchr9:69264747..69278582hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3813836
hg1913836
hg1813836
hg1713836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1639995, nssv1639994, nssv1639999, nssv1639998, nssv1639993, nssv1639992, nssv1639997, nssv1639996, nssv1639990, nssv1639991
SamplesNA18523, NA18506, NA18508, NA18856, NA18956, NA19139, NA19141, NA19138, NA19201, NA19116
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)nsv442554
Frequency
Sample Size270
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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