A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2149593



Internal ID17440932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41708605..41710460hg38UCSC Ensembl
Innerchr19:42212524..42214379hg19UCSC Ensembl
Innerchr19:46904364..46906219hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381856
hg191856
hg181856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978820
Supporting Variants
SamplesHGDP00665
Known GenesCEACAM5
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)nssv2149593
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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