A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961186



Internal ID18249746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14766841..14768387hg38UCSC Ensembl
Innerchr19:14877653..14879199hg19UCSC Ensembl
Innerchr19:14738653..14740199hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381547
hg191547
hg181547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2135642, nssv2135639, nssv2135645, nssv2135638, nssv2135643, nssv2135640, nssv2135644, nssv2135646, nssv2135641, nssv2135637
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEMR2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961186
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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