A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2149701



Internal ID17387010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42521032..42523494hg38UCSC Ensembl
Innerchr19:43025184..43027646hg19UCSC Ensembl
Innerchr19:47717024..47719486hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382463
hg192463
hg182463
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963054
Supporting Variants
SamplesHGDP00456
Known GenesCEACAM1, 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)nssv2149701
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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