A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982347



Internal ID18617542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:128692603..128696451hg38UCSC Ensembl
Innerchr9:131454882..131458730hg19UCSC Ensembl
Innerchr9:130494703..130498551hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg383849
hg193849
hg183849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2568639, nssv2568637, nssv2568638, nssv2568642, nssv2568644, nssv2568645, nssv2568641, nssv2568640, nssv2568643, nssv2568646
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSET
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982347
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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