A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945979



Internal ID18246143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64917914..64918776hg38UCSC Ensembl
Innerchr1:65383597..65384459hg19UCSC Ensembl
Innerchr1:65156185..65157047hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38863
hg19863
hg18863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1768854, nssv1768856, nssv1768862, nssv1768855, nssv1768860, nssv1768858, nssv1768861, nssv1768857, nssv1768859, nssv1768863
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesJAK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945979
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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