A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442837



Internal ID15501556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:830721..874393hg38UCSC Ensembl
Innerchr1:766101..809773hg19UCSC Ensembl
Innerchr1:755964..799636hg18UCSC Ensembl
Innerchr1:805964..849636hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3843673
hg1943673
hg1843673
hg1743673
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1616613, nssv1617391, nssv1616724, nssv1618168, nssv1617613, nssv1617835, nssv1617946, nssv1616612, nssv1618057, nssv1617724, nssv1617502
SamplesNA18947, NA18635, NA18571, NA18990, NA18951, NA18572, NA18976, NA18573, NA18564, NA18972, NA18620
Known GenesFAM41C, LINC01128
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)nsv442837
Frequency
Sample Size270
Observed Gain10
Observed Loss1
Observed Complex0
Frequencyn/a


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