A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1639403



Internal ID15482763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:42697878..42727685hg38UCSC Ensembl
Innerchr9:44243434..44273241hg19UCSC Ensembl
Innerchr9:44183430..44213237hg18UCSC Ensembl
Innerchr9:43394507..43424314hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3829808
hg1929808
hg1829808
hg1729808
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442544
Supporting Variants
SamplesNA18912
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)nssv1639403
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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