A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2567916



Internal ID17772164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:131781313..131782856hg38UCSC Ensembl
Innerchr9:134656700..134658243hg19UCSC Ensembl
Innerchr9:133646521..133648064hg18UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg381544
hg191544
hg181544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972457
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)nssv2567916
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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