A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2544960



Internal ID17847875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39340717..39386275hg38UCSC Ensembl
Innerchr9:65479191..65524298hg19UCSC Ensembl
Innerchr9:65219011..65264118hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3845559
hg1945108
hg1845108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982274
Supporting Variants
SamplesHGDP01029
Known GenesFAM74A2, FAM74A4, SPATA31A5, SPATA31A7
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)nssv2544960
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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