A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2412280



Internal ID17740713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:61567886..61577273hg38UCSC Ensembl
Innerchr6:62277791..62287178hg19UCSC Ensembl
Innerchr6:62335750..62345137hg18UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg389388
hg199388
hg189388
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981153
Supporting Variants
SamplesHGDP00456
Known GenesMTRNR2L9
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)nssv2412280
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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