A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946078



Internal ID18246242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92837307..92838023hg38UCSC Ensembl
Innerchr1:93302864..93303580hg19UCSC Ensembl
Innerchr1:93075452..93076168hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38717
hg19717
hg18717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1777732, nssv1777734, nssv1777736, nssv1777733, nssv1777729, nssv1777735, nssv1777731, nssv1777727, nssv1777728, nssv1777730
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFAM69A, RPL5, SNORD21
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946078
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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