A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2416309



Internal ID17872462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:79353238..79354803hg38UCSC Ensembl
Innerchr6:80062955..80064520hg19UCSC Ensembl
Innerchr6:80119674..80121239hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg381566
hg191566
hg181566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981159
Supporting Variants
SamplesHGDP01284
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)nssv2416309
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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