A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2396534



Internal ID17841314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:20490446..20493315hg38UCSC Ensembl
Innerchr6:20490677..20493546hg19UCSC Ensembl
Innerchr6:20598656..20601525hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382870
hg192870
hg182870
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965685
Supporting Variants
SamplesHGDP00998
Known GenesE2F3
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)nssv2396534
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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