A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441790



Internal ID15153823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541857..143764768hg38UCSC Ensembl
Innerchr1:149036524..149259416hg19UCSC Ensembl
Innerchr1:147303148..147526040hg18UCSC Ensembl
Innerchr1:145816116..146039008hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38222912
hg19222893
hg18222893
hg17222893
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
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv441790
Frequency
Sample Size270
Observed Gain6
Observed Loss61
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer