A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558046



Internal ID15998769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31113353..31257887hg38UCSC Ensembl
Innerchr12:31266287..31410821hg19UCSC Ensembl
Innerchr12:31157554..31302088hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38144535
hg19144535
hg18144535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2464n54
Supporting Variantsnssv791575, nssv791573, nssv1176280, nssv791574, nssv791572
SamplesNINDS_245
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558046
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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