A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2157891



Internal ID17407018
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 StatusS
Merged Variantsnsv961246
Supporting Variants
SamplesHGDP00521
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
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2157891
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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