A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442392



Internal ID15154425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15977994..15984019hg38UCSC Ensembl
Innerchr16:16071851..16077876hg19UCSC Ensembl
Innerchr16:15979352..15985377hg18UCSC Ensembl
Innerchr16:15979352..15985377hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg386026
hg196026
hg186026
hg176026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660045, nssv1660044, nssv1660042, nssv1660043
SamplesNA19161, NA19100, NA19159, NA19099
Known GenesABCC1
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)nsv442392
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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