A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973080



Internal ID18608295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63003867..63005521hg38UCSC Ensembl
Innerchr12:63397647..63399301hg19UCSC Ensembl
Innerchr12:61683914..61685568hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381655
hg191655
hg181655
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1934721, nssv1934720, nssv1934726, nssv1934719, nssv1934725, nssv1934722, nssv1934718, nssv1934724, nssv1934727, nssv1934723
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)nsv973080
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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