A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2538315



Internal ID17840239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:61175835..61220450hg38UCSC Ensembl
Innerchr9:43600031..43644940hg19UCSC Ensembl
Innerchr9:43540027..43584936hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3844616
hg1944910
hg1844910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972712
Supporting Variants
SamplesHGDP00998
Known GenesSPATA31A6
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)nssv2538315
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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