A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976107



Internal ID18611314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40749019..40759005hg38UCSC Ensembl
Innerchr13:41323155..41333141hg19UCSC Ensembl
Innerchr13:40221155..40231141hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg389987
hg199987
hg189987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1958997, nssv1958993, nssv1958995, nssv1958998, nssv1958991, nssv1958996, nssv1958992, nssv1958994, nssv1958989, nssv1958990
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMRPS31
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976107
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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