A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2407509



Internal ID17746781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:37044957..37046009hg38UCSC Ensembl
Innerchr6:37012733..37013785hg19UCSC Ensembl
Innerchr6:37120711..37121763hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381053
hg191053
hg181053
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981136
Supporting Variants
SamplesHGDP00521
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)nssv2407509
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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