A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1847678



Internal ID17745484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49430930..49441372hg38UCSC Ensembl
Innerchr10:50638976..50649418hg19UCSC Ensembl
Innerchr10:50308982..50319424hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3810443
hg1910443
hg1810443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947978
Supporting Variants
SamplesHGDP00521
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)nssv1847678
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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