A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2393191



Internal ID17842162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:5803927..5811188hg38UCSC Ensembl
Innerchr6:5804160..5811421hg19UCSC Ensembl
Innerchr6:5749159..5756420hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg387262
hg197262
hg187262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970074
Supporting Variants
SamplesHGDP00998
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)nssv2393191
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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