A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961855



Internal ID18250415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108687001..108712756hg38UCSC Ensembl
Innerchr2:109303457..109329212hg19UCSC Ensembl
Innerchr2:108669889..108695644hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3825756
hg1925756
hg1825756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2194720, nssv2194725, nssv2194721, nssv2194719, nssv2194727, nssv2194724, nssv2194723, nssv2194726, nssv2194728, nssv2194722
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLIMS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961855
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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