A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983267



Internal ID18271775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6869188..6870599hg38UCSC Ensembl
Innerchr12:6978352..6979763hg19UCSC Ensembl
Innerchr12:6848613..6850024hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381412
hg191412
hg181412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1910931, nssv1910933, nssv1910939, nssv1910932, nssv1910937, nssv1910938, nssv1910935, nssv1911468, nssv1910934, nssv1910936
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTPI1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983267
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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