A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2543301



Internal ID17809915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62547274..62592413hg38UCSC Ensembl
Innerchr9:46858575..46903714hg19UCSC Ensembl
Innerchr9:46698571..46743710hg18UCSC Ensembl
Cytoband9p11.1
Allele length
AssemblyAllele length
hg3845140
hg1945140
hg1845140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968668
Supporting Variants
SamplesHGDP00927
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)nssv2543301
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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