A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2554221



Internal ID17837824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:81990381..81993223hg38UCSC Ensembl
Innerchr9:84605296..84608138hg19UCSC Ensembl
Innerchr9:83795116..83797958hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg382843
hg192843
hg182843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968711
Supporting Variants
SamplesHGDP00998
Known GenesSPATA31D1
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)nssv2554221
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