A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1803679



Internal ID17748250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:164347075..164360234hg38UCSC Ensembl
Innerchr1:164316312..164329471hg19UCSC Ensembl
Innerchr1:162582936..162596095hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3813160
hg1913160
hg1813160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946477
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv1803679
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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