A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2426014



Internal ID17852139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136899012..136901037hg38UCSC Ensembl
Innerchr6:137220150..137222175hg19UCSC Ensembl
Innerchr6:137261843..137263868hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg382026
hg192026
hg182026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965772
Supporting Variants
SamplesHGDP01029
Known GenesPEX7
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)nssv2426014
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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