A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946394



Internal ID18246558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153045229..153056914hg38UCSC Ensembl
Innerchr1:153017705..153029390hg19UCSC Ensembl
Innerchr1:151284329..151296014hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3811686
hg1911686
hg1811686
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1797743, nssv1797740, nssv1797737, nssv1797739, nssv1797742, nssv1797736, nssv1797741, nssv1797735, nssv1797744, nssv1797738
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPRR2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946394
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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