A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2568643



Internal ID17426842
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 StatusS
Merged Variantsnsv982347
Supporting Variants
SamplesHGDP00542
Known GenesSET
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2568643
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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