A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1637739



Internal ID15461946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378084..39529446hg38UCSC Ensembl
Innerchr8:39235603..39386965hg19UCSC Ensembl
Innerchr8:39354760..39506122hg18UCSC Ensembl
Innerchr8:39354760..39506122hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38151363
hg19151363
hg18151363
hg17151363
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442511
Supporting Variants
SamplesNA11839
Known GenesADAM3A, ADAM5
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)nssv1637739
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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