A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2149473



Internal ID17457263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41683363..41684362hg38UCSC Ensembl
Innerchr19:42187294..42188294hg19UCSC Ensembl
Innerchr19:46879134..46880134hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381000
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960841
Supporting Variants
SamplesHGDP00778
Known GenesCEACAM7
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)nssv2149473
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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