A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961854



Internal ID18250414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108650780..108681257hg38UCSC Ensembl
Innerchr2:109267236..109297713hg19UCSC Ensembl
Innerchr2:108633668..108664145hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3830478
hg1930478
hg1830478
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2193838, nssv2193834, nssv2193837, nssv2193830, nssv2193831, nssv2193832, nssv2193835, nssv2193839, nssv2193836, nssv2193833
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLIMS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961854
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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