A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1828390



Internal ID17447405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246634315..246636929hg38UCSC Ensembl
Innerchr1:246797617..246800231hg19UCSC Ensembl
Innerchr1:244864240..244866854hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382615
hg192615
hg182615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945431
Supporting Variants
SamplesHGDP00778
Known GenesCNST
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)nssv1828390
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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