A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946001



Internal ID18592851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76695291..76700757hg38UCSC Ensembl
Innerchr1:77160976..77166442hg19UCSC Ensembl
Innerchr1:76933564..76939030hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385467
hg195467
hg185467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1771751, nssv1771753, nssv1771754, nssv1771758, nssv1771755, nssv1771749, nssv1771750, nssv1771752, nssv1771756, nssv1771757
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)nsv946001
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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