A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558147



Internal ID16345556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31851236..31910068hg38UCSC Ensembl
Innerchr12:32004170..32063002hg19UCSC Ensembl
Innerchr12:31895437..31954269hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3858833
hg1958833
hg1858833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2483n54
Supporting Variantsnssv1176294, nssv1176290, nssv1176296, nssv791813, nssv1176292, nssv791812, nssv791809, nssv1176295, nssv791807, nssv1176289, nssv1176293, nssv1176291, nssv791808, nssv791810, nssv791811
Samples1780862459_A, 1780862585_A, NINDS_81, 1780862573_A, NINDS_198, 1780854418_A, 1788485590_A, NINDS_259
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558147
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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