A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2547041



Internal ID17803776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62798833..62843482hg38UCSC Ensembl
Innerchr9:66454657..66499306hg19UCSC Ensembl
Innerchr9:66194458..66239126hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3844650
hg1944650
hg1844669
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972736
Supporting Variants
SamplesHGDP00778
Known GenesPTGER4P2-CDK2AP2P2
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)nssv2547041
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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