A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2147135



Internal ID17514676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37003797..37015325hg38UCSC Ensembl
Innerchr19:37494699..37506227hg19UCSC Ensembl
Innerchr19:42186539..42198067hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3811529
hg1911529
hg1811529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961214
Supporting Variants
SamplesHGDP01284
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)nssv2147135
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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