A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2410686



Internal ID17457088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:50912579..50924284hg38UCSC Ensembl
Innerchr6:50880292..50891997hg19UCSC Ensembl
Innerchr6:50988251..50999956hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3811706
hg1911706
hg1811706
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981143
Supporting Variants
SamplesHGDP00778
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)nssv2410686
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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