A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv441790

Internal ID15153823
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541857..143764768hg38UCSC Ensembl
Innerchr1:149036524..149259416hg19UCSC Ensembl
Innerchr1:147303148..147526040hg18UCSC Ensembl
Innerchr1:145816116..146039008hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1618304, nssv1618316, nssv1618306, nssv1618319, nssv1618286, nssv1618309, nssv1618303, nssv1618321, nssv1618308, nssv1618337, nssv1617352, nssv1618341, nssv1618282, nssv1618292, nssv1618340, nssv1618299, nssv1618328, nssv1618327, nssv1618323, nssv1618314, nssv1618301, nssv1618289, nssv1618280, nssv1618305, nssv1618325, nssv1618338, nssv1618310, nssv1618288, nssv1618294, nssv1618285, nssv1618317, nssv1618279, nssv1617353, nssv1618297, nssv1618339, nssv1618302, nssv1618312, nssv1618322, nssv1618333, nssv1618335, nssv1618336, nssv1618295, nssv1618298, nssv1618296, nssv1618332, nssv1618290, nssv1618284, nssv1618318, nssv1618342, nssv1618293, nssv1618315, nssv1618329, nssv1618287, nssv1618326, nssv1618281, nssv1618300, nssv1618324, nssv1618313, nssv1618307, nssv1618334, nssv1618331, nssv1618283, nssv1618330, nssv1617354, nssv1618311, nssv1618291, nssv1618320
SamplesNA10859, NA19142, NA11881, NA18621, NA12154, NA18594, NA18914, NA07056, NA19209, NA18526, NA12264, NA18545, NA18608, NA07019, NA07348, NA12044, NA18506, NA18949, NA11882, NA18508, NA11839, NA11840, NA07034, NA12004, NA18635, NA18576, NA07357, NA18592, NA18856, NA18976, NA18637, NA11995, NA18593, NA19100, NA19000, NA12239, NA12716, NA19103, NA06985, NA18968, NA19102, NA19005, NA18558, NA12057, NA18978, NA18997, NA18940, NA10851, NA10857, NA07055, NA10860, NA19101, NA06991, NA18857, NA10830, NA19099, NA07022, NA11993, NA18611, NA12717, NA06994, NA18913, NA18555, NA19200, NA19007, NA18980, NA10854
Known GenesLOC101929780, NBPF23
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
Pubmed ID18776908
Accession Number(s)nsv441790
Sample Size270
Observed Gain6
Observed Loss61
Observed Complex0

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