A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1808184



Internal ID17867440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191144810..191147425hg38UCSC Ensembl
Innerchr1:191113940..191116555hg19UCSC Ensembl
Innerchr1:189380563..189383178hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg382616
hg192616
hg182616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946546
Supporting Variants
SamplesHGDP01284
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)nssv1808184
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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