A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945369



Internal ID18592220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231293227..231310304hg38UCSC Ensembl
Innerchr1:231428973..231446050hg19UCSC Ensembl
Innerchr1:229495596..229512673hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3817078
hg1917078
hg1817078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1823463, nssv1823464, nssv1823468, nssv1823459, nssv1823465, nssv1823460, nssv1823467, nssv1823466, nssv1823462, nssv1823461
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)nsv945369
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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