A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1870870



Internal ID17829205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133622657..133772058hg38UCSC Ensembl
Innerchr10:135436161..135509383hg19UCSC Ensembl
Innerchr10:135286151..135359373hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38149402
hg1973223
hg1873223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948234
Supporting Variants
SamplesHGDP00998
Known GenesDUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046
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)nssv1870870
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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