A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514686



Internal ID15466320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99896683..99897707hg38UCSC Ensembl
Innerchr12:100290461..100291485hg19UCSC Ensembl
Innerchr12:98814592..98815616hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381025
hg191025
hg181025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2788837, nssv2788643, nssv2794192, nssv2792679, nssv2796847, nssv2796901, nssv2793558, nssv2795358, nssv2795652, nssv2791566, nssv2789598, nssv2792209, nssv2793822, nssv2792952, nssv2797344, nssv2791291, nssv2796794, nssv2793332, nssv2793841, nssv2794607
SamplesNA12249, NA07037, NA12875, NA12340, NA12776, NA12864, NA07357, NA12873, NA11894, NA06985, NA12348, NA12877, NA12872, NA12283, NA12891, NA06991, NA12812, NA12889, NA12878, NA12274
Known GenesANKS1B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514686
Frequency
Sample Size2366
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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