A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2531417



Internal ID17774636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39340706..39390774hg38UCSC Ensembl
Innerchr9:39340703..39390771hg19UCSC Ensembl
Innerchr9:39330703..39380771hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3850069
hg1950069
hg1850069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972319
Supporting Variants
SamplesHGDP00542
Known GenesSPATA31A1, SPATA31A2
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)nssv2531417
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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