A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973100



Internal ID18608315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:91870962..91871839hg38UCSC Ensembl
Innerchr12:92264738..92265615hg19UCSC Ensembl
Innerchr12:90788869..90789746hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38878
hg19878
hg18878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1938826, nssv1939621, nssv1938822, nssv1938823, nssv1938825, nssv1938821, nssv1938820, nssv1938827, nssv1938824, nssv1939620
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)nsv973100
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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