A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2147406



Internal ID17883330
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 StatusS
Merged Variantsnsv961216
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2147406
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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