A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1853247



Internal ID17778710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68984349..68984942hg38UCSC Ensembl
Innerchr10:70744105..70744698hg19UCSC Ensembl
Innerchr10:70414111..70414704hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948053
Supporting Variants
SamplesHGDP00665
Known GenesDDX21
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)nssv1853247
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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