A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442064



Internal ID15154097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:115943399..115946379hg38UCSC Ensembl
Innerchr7:115583453..115586433hg19UCSC Ensembl
Innerchr7:115370689..115373669hg18UCSC Ensembl
Innerchr7:115177404..115180384hg17UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg382981
hg192981
hg182981
hg172981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658459, nssv1658460, nssv1658458, nssv1658462, nssv1658463, nssv1658461
SamplesNA18621, NA18545, NA18582, NA18951, NA18572, NA18636
Known GenesTFEC
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)nsv442064
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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