A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946453



Internal ID18593303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:160265822..160276260hg38UCSC Ensembl
Innerchr1:160235612..160246050hg19UCSC Ensembl
Innerchr1:158502236..158512674hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3810439
hg1910439
hg1810439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1804217, nssv1804216, nssv1804211, nssv1804210, nssv1804214, nssv1804215, nssv1804213, nssv1804219, nssv1804218, nssv1804212
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)nsv946453
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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