A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442439



Internal ID15501158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:44396922..44398661hg38UCSC Ensembl
Innerchr18:41976887..41978626hg19UCSC Ensembl
Innerchr18:40230885..40232624hg18UCSC Ensembl
Innerchr18:40230885..40232624hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381740
hg191740
hg181740
hg171740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660308, nssv1660294, nssv1660309, nssv1660307, nssv1660299, nssv1660298, nssv1660310, nssv1660305, nssv1660304, nssv1660306, nssv1660297, nssv1660303, nssv1660296, nssv1660302, nssv1660300, nssv1660301, nssv1660295
SamplesNA18507, NA12751, NA07029, NA19127, NA18860, NA18960, NA11831, NA10863, NA18516, NA12239, NA12264, NA18858, NA19094, NA19193, NA19093, NA19129, NA07000
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)nsv442439
Frequency
Sample Size270
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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