A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2417330



Internal ID17784881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:89815010..89815624hg38UCSC Ensembl
Innerchr6:90524729..90525343hg19UCSC Ensembl
Innerchr6:90581450..90582064hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38615
hg19615
hg18615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981165
Supporting Variants
SamplesHGDP00665
Known GenesMDN1
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)nssv2417330
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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