A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2135541



Internal ID17405486
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 StatusS
Merged Variantsnsv961185
Supporting Variants
SamplesHGDP00521
Known GenesDNAJB1
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)nssv2135541
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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