A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2543492



Internal ID17843527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62454535..62457730hg38UCSC Ensembl
Innerchr9:46765836..46769031hg19UCSC Ensembl
Innerchr9:46605832..46609027hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg383196
hg193196
hg183196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv972367
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2543492
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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