A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983356



Internal ID18618550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96898991..96901331hg38UCSC Ensembl
Innerchr12:97292769..97295109hg19UCSC Ensembl
Innerchr12:95816900..95819240hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382341
hg192341
hg182341
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1940666, nssv1940674, nssv1940675, nssv1940668, nssv1940670, nssv1940671, nssv1940667, nssv1940669, nssv1940672, nssv1940673
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)nsv983356
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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