A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2403456



Internal ID17780269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32324893..32326484hg38UCSC Ensembl
Innerchr6:32292670..32294261hg19UCSC Ensembl
Innerchr6:32400648..32402239hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381592
hg191592
hg181592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981130
Supporting Variants
SamplesHGDP00665
Known GenesC6orf10
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)nssv2403456
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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