A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973078



Internal ID18608293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58243950..58245787hg38UCSC Ensembl
Innerchr12:58637733..58639570hg19UCSC Ensembl
Innerchr12:56924000..56925837hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381838
hg191838
hg181838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1933912, nssv1933913, nssv1933909, nssv1933910, nssv1933915, nssv1933906, nssv1933911, nssv1933907, nssv1933908, nssv1933914
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)nsv973078
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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