A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1804316



Internal ID17814374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:160313894..160318310hg38UCSC Ensembl
Innerchr1:160283684..160288100hg19UCSC Ensembl
Innerchr1:158550308..158554724hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg384417
hg194417
hg184417
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946454
Supporting Variants
SamplesHGDP00927
Known GenesCOPA, SUMO1P3
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)nssv1804316
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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