A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972807



Internal ID18608023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:128251140..128267773hg38UCSC Ensembl
Innerchr9:131013419..131030052hg19UCSC Ensembl
Innerchr9:130053240..130069873hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3816634
hg1916634
hg1816634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2567555, nssv2567559, nssv2567557, nssv2567552, nssv2567554, nssv2567560, nssv2567553, nssv2567556, nssv2567558, nssv2567561
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNM1, GOLGA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972807
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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