A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1946472



Internal ID17390822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121279925..121283251hg38UCSC Ensembl
Innerchr12:121717728..121721054hg19UCSC Ensembl
Innerchr12:120202111..120205437hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383327
hg193327
hg183327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983372
Supporting Variants
SamplesHGDP00456
Known GenesCAMKK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1946472
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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