A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1639188



Internal ID15490839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39827488..39840169hg38UCSC Ensembl
Innerchr9:41972506..41985187hg19UCSC Ensembl
Innerchr9:41962506..41975187hg18UCSC Ensembl
Innerchr9:41889553..41902234hg17UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3812682
hg1912682
hg1812682
hg1712682
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442542
Supporting Variants
SamplesNA19098
Known GenesKGFLP2
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)nssv1639188
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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