A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2551837



Internal ID17773915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:72470465..72471716hg38UCSC Ensembl
Innerchr9:75085381..75086632hg19UCSC Ensembl
Innerchr9:74275201..74276452hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381252
hg191252
hg181252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982305
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv2551837
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