A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975462



Internal ID18263984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27263143..27270059hg38UCSC Ensembl
Innerchr12:27416076..27422992hg19UCSC Ensembl
Innerchr12:27307343..27314259hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386917
hg196917
hg186917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1919078, nssv1919071, nssv1919076, nssv1919073, nssv1919072, nssv1919069, nssv1919070, nssv1919074, nssv1919077, nssv1919075
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSTK38L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975462
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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