A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983372



Internal ID18271880
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 StatusM
Merged Variants
Supporting Variantsnssv1946475, nssv1946476, nssv1946472, nssv1946469, nssv1946468, nssv1946470, nssv1946473, nssv1946471, nssv1946467, nssv1946474
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCAMKK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983372
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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