A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946043



Internal ID18592893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:87419891..87438378hg38UCSC Ensembl
Innerchr1:87885574..87904061hg19UCSC Ensembl
Innerchr1:87658162..87676649hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3818488
hg1918488
hg1818488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1773998, nssv1773997, nssv1773996, nssv1773993, nssv1773999, nssv1774001, nssv1773992, nssv1773995, nssv1773994, nssv1774000
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)nsv946043
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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