A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442332



Internal ID15501051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:36202823..36205827hg38UCSC Ensembl
Innerchr14:36672029..36675033hg19UCSC Ensembl
Innerchr14:35741780..35744784hg18UCSC Ensembl
Innerchr14:35741780..35744784hg17UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg383005
hg193005
hg183005
hg173005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659768, nssv1659765, nssv1659769, nssv1659767, nssv1659770, nssv1659771, nssv1659766
SamplesNA19131, NA18853, NA19132, NA18914, NA18913, NA19173, NA18854
Known Genes
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)nsv442332
Frequency
Sample Size270
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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