A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948234



Internal ID18595080
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 StatusM
Merged Variants
Supporting Variantsnssv1870873, nssv1870870, nssv1870874, nssv1870875, nssv1870867, nssv1870868, nssv1870869, nssv1870876, nssv1870871, nssv1870872
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948234
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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