A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961847



Internal ID18597093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106204043..106204845hg38UCSC Ensembl
Innerchr2:106820499..106821301hg19UCSC Ensembl
Innerchr2:106186931..106187733hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38803
hg19803
hg18803
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2192053, nssv2192054, nssv2192052, nssv2192047, nssv2192056, nssv2192050, nssv2192048, nssv2192055, nssv2192049, nssv2192051
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)nsv961847
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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