A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946426



Internal ID18593276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157072167..157076824hg38UCSC Ensembl
Innerchr1:157041959..157046616hg19UCSC Ensembl
Innerchr1:155308583..155313240hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg384658
hg194658
hg184658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1801186, nssv1801189, nssv1801183, nssv1801187, nssv1801185, nssv1801184, nssv1801192, nssv1801188, nssv1801191, nssv1801190
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)nsv946426
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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