A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946374



Internal ID18593224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149710021..149757133hg38UCSC Ensembl
Innerchr1:149681569..149728683hg19UCSC Ensembl
Innerchr1:147948193..147995307hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3847113
hg1947115
hg1847115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1797260, nssv1797269, nssv1797263, nssv1797268, nssv1797261, nssv1797265, nssv1797266, nssv1797267, nssv1797264, nssv1797262
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946374
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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