A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442562



Internal ID15154595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13339386..13362453hg38UCSC Ensembl
Innerchr1:13444908..13468022hg19UCSC Ensembl
Innerchr1:13317495..13340609hg18UCSC Ensembl
Innerchr1:13190214..13213328hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3823068
hg1923115
hg1823115
hg1723115
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1617376, nssv1617387, nssv1617399, nssv1617335, nssv1617374, nssv1617398, nssv1617401, nssv1617324, nssv1617393, nssv1617394, nssv1617371, nssv1617389, nssv1617356, nssv1617346, nssv1617375, nssv1617367, nssv1617386, nssv1617359, nssv1617364, nssv1617368, nssv1617382, nssv1617366, nssv1617370, nssv1617362, nssv1617381, nssv1617360, nssv1617396, nssv1617361, nssv1617365, nssv1617363, nssv1617373, nssv1617372, nssv1617390, nssv1617397, nssv1617377, nssv1617385, nssv1617395, nssv1617383, nssv1617378, nssv1617355, nssv1617357, nssv1617384, nssv1617379, nssv1617388, nssv1617400
SamplesNA18621, NA18964, NA18952, NA07056, NA18612, NA19120, NA18526, NA18550, NA18570, NA10847, NA18603, NA18948, NA18529, NA18969, NA18947, NA18573, NA18542, NA07019, NA18998, NA18624, NA18992, NA12004, NA18566, NA18635, NA18622, NA18563, NA18990, NA18636, NA18592, NA18637, NA12239, NA18633, NA19005, NA19119, NA18978, NA18564, NA18540, NA18579, NA18940, NA18995, NA18971, NA18577, NA07022, NA12003, NA18555
Known GenesPRAMEF13
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)nsv442562
Frequency
Sample Size270
Observed Gain4
Observed Loss41
Observed Complex0
Frequencyn/a


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