A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1804497



Internal ID17872182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159973638..159974492hg38UCSC Ensembl
Innerchr1:159943428..159944282hg19UCSC Ensembl
Innerchr1:158210052..158210906hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38855
hg19855
hg18855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946452
Supporting Variants
SamplesHGDP01284
Known GenesLINC01133
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)nssv1804497
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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