A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2150687



Internal ID17381130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42592710..42597005hg38UCSC Ensembl
Innerchr19:43096862..43101157hg19UCSC Ensembl
Innerchr19:47788702..47792997hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg384296
hg194296
hg184296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963055
Supporting Variants
SamplesHGDP00456
Known GenesCEACAM8, LIPE-AS1
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)nssv2150687
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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