A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980195



Internal ID18615395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:38827359..38828559hg38UCSC Ensembl
Innerchr4:38828980..38830180hg19UCSC Ensembl
Innerchr4:38505375..38506575hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381201
hg191201
hg181201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2314221, nssv2314226, nssv2314225, nssv2314222, nssv2314224, nssv2314218, nssv2314217, nssv2314220, nssv2314219, nssv2314223
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTLR6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980195
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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