A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2569620



Internal ID17405355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133348790..133351286hg38UCSC Ensembl
Innerchr9:136215645..136218141hg19UCSC Ensembl
Innerchr9:135205466..135207962hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg382497
hg192497
hg182497
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972461
Supporting Variants
SamplesHGDP00521
Known GenesRPL7A, SNORD24, SNORD36A, SNORD36B, SNORD36C
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)nssv2569620
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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