A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2149793



Internal ID17540886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42577206..42590553hg38UCSC Ensembl
Innerchr19:43081358..43094705hg19UCSC Ensembl
Innerchr19:47773198..47786545hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3813348
hg1913348
hg1813348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978823
Supporting Variants
SamplesHGDP01307
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)nssv2149793
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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