A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2404272



Internal ID17741019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34616240..34617335hg38UCSC Ensembl
Innerchr6:34584017..34585112hg19UCSC Ensembl
Innerchr6:34691995..34693090hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381096
hg191096
hg181096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981134
Supporting Variants
SamplesHGDP00456
Known GenesC6orf106
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)nssv2404272
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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