A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961216



Internal ID18596462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39534551..39535912hg38UCSC Ensembl
Innerchr19:40025191..40026552hg19UCSC Ensembl
Innerchr19:44717031..44718392hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381362
hg191362
hg181362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2147414, nssv2147407, nssv2147409, nssv2147410, nssv2147411, nssv2147412, nssv2147406, nssv2147408, nssv2147413, nssv2147415
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961216
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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