A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2562902



Internal ID17884851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:117180173..117182193hg38UCSC Ensembl
Innerchr9:119942452..119944472hg19UCSC Ensembl
Innerchr9:118982273..118984293hg18UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg382021
hg192021
hg182021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982341
Supporting Variants
SamplesHGDP01307
Known GenesASTN2, SNORA70C
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)nssv2562902
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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