A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442039



Internal ID15154072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:37426965..37428465hg38UCSC Ensembl
Innerchr7:37466568..37468068hg19UCSC Ensembl
Innerchr7:37433093..37434593hg18UCSC Ensembl
Innerchr7:37239808..37241308hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381501
hg191501
hg181501
hg171501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658328, nssv1658329
SamplesNA12891, NA19092
Known GenesELMO1
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)nsv442039
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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