A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2409012



Internal ID17428818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57341200..57420699hg38UCSC Ensembl
Innerchr6:57205998..57285497hg19UCSC Ensembl
Innerchr6:57313957..57393456hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3879500
hg1979500
hg1879500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970125
Supporting Variants
SamplesHGDP00542
Known GenesPRIM2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2409012
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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