A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945988



Internal ID18592838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68242472..68244421hg38UCSC Ensembl
Innerchr1:68708155..68710104hg19UCSC Ensembl
Innerchr1:68480743..68482692hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381950
hg191950
hg181950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1770258, nssv1770266, nssv1770263, nssv1770267, nssv1770265, nssv1770264, nssv1770260, nssv1770262, nssv1770261, nssv1770259
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)nsv945988
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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