A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1806112



Internal ID17830977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:165818551..165820871hg38UCSC Ensembl
Innerchr1:165787788..165790108hg19UCSC Ensembl
Innerchr1:164054412..164056732hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg382321
hg192321
hg182321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946482
Supporting Variants
SamplesHGDP00998
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)nssv1806112
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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