A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2553484



Internal ID17802848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:74980836..74982557hg38UCSC Ensembl
Innerchr9:77595752..77597473hg19UCSC Ensembl
Innerchr9:76785572..76787293hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381722
hg191722
hg181722
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982307
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2553484
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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