A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973058



Internal ID18608273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42287122..42290034hg38UCSC Ensembl
Innerchr12:42680924..42683836hg19UCSC Ensembl
Innerchr12:40967191..40970103hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382913
hg192913
hg182913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1926138, nssv1926135, nssv1926129, nssv1926134, nssv1926137, nssv1926133, nssv1926132, nssv1926131, nssv1926136, nssv1926130
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973058
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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