A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2404468



Internal ID17740658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33398018..33403502hg38UCSC Ensembl
Innerchr6:33365795..33371279hg19UCSC Ensembl
Innerchr6:33473773..33479257hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg385485
hg195485
hg185485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969387
Supporting Variants
SamplesHGDP00456
Known GenesKIFC1
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)nssv2404468
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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