A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442415



Internal ID15501134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29853818..29855665hg38UCSC Ensembl
Innerchr17:28180836..28182683hg19UCSC Ensembl
Innerchr17:25204962..25206809hg18UCSC Ensembl
Innerchr17:25204962..25206809hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381848
hg191848
hg181848
hg171848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660193, nssv1660192, nssv1660195, nssv1660194
SamplesNA18855, NA18501, NA18500, NA07034
Known GenesSSH2
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)nsv442415
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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