A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1856830



Internal ID17415731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:78035183..78036183hg38UCSC Ensembl
Innerchr10:79794941..79795941hg19UCSC Ensembl
Innerchr10:79464947..79465947hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948078
Supporting Variants
SamplesHGDP00542
Known GenesRPS24
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)nssv1856830
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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