A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975460



Internal ID18263982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24583668..24584535hg38UCSC Ensembl
Innerchr12:24736602..24737469hg19UCSC Ensembl
Innerchr12:24627869..24628736hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38868
hg19868
hg18868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1919399, nssv1919401, nssv1919405, nssv1919404, nssv1919403, nssv1919398, nssv1919396, nssv1919400, nssv1919397, nssv1919402
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLINC00477
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975460
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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