A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1857848



Internal ID17762501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79502678..79504045hg38UCSC Ensembl
Innerchr10:81262434..81263801hg19UCSC Ensembl
Innerchr10:80932440..80933807hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg381368
hg191368
hg181368
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948081
Supporting Variants
SamplesHGDP00542
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)nssv1857848
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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