A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976100



Internal ID18611307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29301388..29310379hg38UCSC Ensembl
Innerchr13:29875525..29884516hg19UCSC Ensembl
Innerchr13:28773525..28782516hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg388992
hg198992
hg188992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1958502, nssv1958506, nssv1958505, nssv1958501, nssv1958500, nssv1958507, nssv1958504, nssv1958499, nssv1958503, nssv1958498
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMTUS2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976100
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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