A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976123



Internal ID18611330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:58528723..58530965hg38UCSC Ensembl
Innerchr13:59102857..59105099hg19UCSC Ensembl
Innerchr13:58000858..58003100hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg382243
hg192243
hg182243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1965414, nssv1965412, nssv1965413, nssv1965410, nssv1965408, nssv1965415, nssv1965407, nssv1965409, nssv1965411, nssv1965406
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)nsv976123
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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