A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442155



Internal ID15500874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76507432..76510394hg38UCSC Ensembl
Innerchr9:79122348..79125310hg19UCSC Ensembl
Innerchr9:78312168..78315130hg18UCSC Ensembl
Innerchr9:76351902..76354864hg17UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382963
hg192963
hg182963
hg172963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658883, nssv1658881, nssv1658884, nssv1658882
SamplesNA12751, NA07048, NA07055, NA12740
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)nsv442155
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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