A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977228



Internal ID18612434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40224749..40228465hg38UCSC Ensembl
Innerchr13:40798886..40802602hg19UCSC Ensembl
Innerchr13:39696886..39700602hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383717
hg193717
hg183717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1961069, nssv1961071, nssv1961065, nssv1961072, nssv1961070, nssv1961064, nssv1961066, nssv1961068, nssv1961067, nssv1961063
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)nsv977228
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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