A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961246



Internal ID18249806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53678499..53773342hg38UCSC Ensembl
Innerchr19:54181753..54276596hg19UCSC Ensembl
Innerchr19:58873565..58968408hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3894844
hg1994844
hg1894844
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2157894, nssv2157896, nssv2157893, nssv2157891, nssv2157895, nssv2157890, nssv2157898, nssv2157899, nssv2157892, nssv2157897
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMIR1283-1, MIR1283-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961246
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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