A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2531754



Internal ID17818215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:60879309..60949588hg38UCSC Ensembl
Innerchr9:39849841..39920079hg19UCSC Ensembl
Innerchr9:39839841..39910079hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3870280
hg1970239
hg1870239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972324
Supporting Variants
SamplesHGDP00927
Known GenesFAM74A1, SPATA31A1, 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)nssv2531754
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer