A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560316



Internal ID16001039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116277205..116277946hg38UCSC Ensembl
Innerchr12:116715010..116715751hg19UCSC Ensembl
Innerchr12:115199393..115200134hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38742
hg19742
hg18742
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2892n54
Supporting Variantsnssv802837, nssv802841, nssv802842, nssv802839, nssv802835, nssv802838, nssv802836, nssv802840
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560316
Frequency
Sample Size17421
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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