A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442712



Internal ID15154745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18583078..18666789hg38UCSC Ensembl
Innerchr16:18594400..18678111hg19UCSC Ensembl
Innerchr16:18501901..18585612hg18UCSC Ensembl
Innerchr16:18501901..18585612hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3883712
hg1983712
hg1883712
hg1783712
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1648444, nssv1648424, nssv1648422, nssv1648429, nssv1648432, nssv1648450, nssv1648437, nssv1648423, nssv1648445, nssv1648433, nssv1648431, nssv1648439, nssv1648427, nssv1648425, nssv1648441, nssv1648448, nssv1648452, nssv1648443, nssv1648451, nssv1648447, nssv1648434, nssv1648435, nssv1648426, nssv1648454, nssv1648453, nssv1648428, nssv1648438, nssv1648442, nssv1648446, nssv1648436, nssv1648449, nssv1648430, nssv1648440
SamplesNA18561, NA18952, NA19209, NA18501, NA18570, NA10847, NA18603, NA18972, NA07348, NA10855, NA18994, NA18949, NA19211, NA12056, NA11839, NA11994, NA07357, NA18592, NA18976, NA12006, NA12145, NA18537, NA18633, NA10856, NA18562, NA18974, NA18987, NA12146, NA12812, NA18971, NA11829, NA18555, NA10861
Known GenesABCC6P1
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)nsv442712
Frequency
Sample Size270
Observed Gain25
Observed Loss8
Observed Complex0
Frequencyn/a


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