A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442414



Internal ID15501133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27417246..27430467hg38UCSC Ensembl
Innerchr17:25744272..25757493hg19UCSC Ensembl
Innerchr17:22768399..22781620hg18UCSC Ensembl
Innerchr17:22768399..22781620hg17UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3813222
hg1913222
hg1813222
hg1713222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660187, nssv1660189, nssv1660184, nssv1660180, nssv1660182, nssv1660183, nssv1660181, nssv1660190, nssv1660188, nssv1660191, nssv1660185, nssv1660186
SamplesNA18862, NA19171, NA19200, NA19210, NA18871, NA18503, NA19202, NA18856, NA18857, NA19140, NA19173, NA18505
Known GenesTBC1D3P5
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)nsv442414
Frequency
Sample Size270
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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