A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1838687



Internal ID17736372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:30695939..30700817hg38UCSC Ensembl
Innerchr10:30984868..30989746hg19UCSC Ensembl
Innerchr10:31024874..31029752hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg384879
hg194879
hg184879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947814
Supporting Variants
SamplesHGDP00456
Known GenesSVILP1
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)nssv1838687
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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