A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442390



Internal ID15501109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2656794..2679700hg38UCSC Ensembl
Innerchr16:2706795..2729701hg19UCSC Ensembl
Innerchr16:2646796..2669702hg18UCSC Ensembl
Innerchr16:2646796..2669702hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3822907
hg1922907
hg1822907
hg1722907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660034, nssv1660029, nssv1660031, nssv1660035, nssv1660030, nssv1660032, nssv1660033
SamplesNA18545, NA12813, NA12812, NA18529, NA18570, NA11882, NA10859
Known GenesERVK13-1
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)nsv442390
Frequency
Sample Size270
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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