A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442558



Internal ID15501277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854187..196932619hg38UCSC Ensembl
Innerchr1:196823317..196901749hg19UCSC Ensembl
Innerchr1:195089940..195168372hg18UCSC Ensembl
Innerchr1:193554974..193633406hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3878433
hg1978433
hg1878433
hg1778433
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1619358, nssv1619357, nssv1619355, nssv1619356, nssv1619348, nssv1619347, nssv1619353, nssv1619352, nssv1619351, nssv1619350, nssv1619349, nssv1619359, nssv1619354
SamplesNA18870, NA18526, NA18563, NA10854, NA19131, NA19130, NA18611, NA18956, NA18503, NA11840, NA19003, NA18872, NA18505
Known GenesCFHR4
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)nsv442558
Frequency
Sample Size270
Observed Gain2
Observed Loss11
Observed Complex0
Frequencyn/a


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