A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961185



Internal ID18249745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14514951..14516048hg38UCSC Ensembl
Innerchr19:14625763..14626860hg19UCSC Ensembl
Innerchr19:14486763..14487860hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381098
hg191098
hg181098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2135544, nssv2135549, nssv2135545, nssv2135543, nssv2135542, nssv2135547, nssv2135540, nssv2135541, nssv2135548, nssv2135546
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNAJB1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961185
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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