A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2127499



Internal ID17864030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3130780..3133911hg38UCSC Ensembl
Innerchr19:3130778..3133909hg19UCSC Ensembl
Innerchr19:3081778..3084909hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383132
hg193132
hg183132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960774
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)nssv2127499
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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