A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2416681



Internal ID17740961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80369778..80381431hg38UCSC Ensembl
Innerchr6:81079495..81091148hg19UCSC Ensembl
Innerchr6:81136214..81147867hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3811654
hg1911654
hg1811654
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970145
Supporting Variants
SamplesHGDP00456
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)nssv2416681
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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