A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442574



Internal ID15154607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46170858..46324325hg38UCSC Ensembl
Innerchr10:47542094..47695561hg19UCSC Ensembl
Innerchr10:47012100..47165567hg18UCSC Ensembl
Innerchr10:47012100..47165567hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38153468
hg19153468
hg18153468
hg17153468
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1640798, nssv1640794, nssv1640791, nssv1640796, nssv1640804, nssv1640787, nssv1640799, nssv1640793, nssv1640805, nssv1640792, nssv1640800, nssv1640802, nssv1640785, nssv1640790, nssv1640795, nssv1640797, nssv1640806, nssv1640782, nssv1640783, nssv1640788, nssv1640786, nssv1640801, nssv1640803, nssv1640784, nssv1640789
SamplesNA18503, NA19142, NA18863, NA18861, NA18951, NA07056, NA18550, NA18948, NA12813, NA19140, NA18624, NA12056, NA11840, NA07048, NA18959, NA19139, NA18504, NA18540, NA19141, NA18940, NA10851, NA07055, NA19138, NA19204, NA10854
Known GenesANTXRL, ANTXRLP1
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)nsv442574
Frequency
Sample Size270
Observed Gain15
Observed Loss10
Observed Complex0
Frequencyn/a


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