A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2426733



Internal ID17809609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:154574068..154576885hg38UCSC Ensembl
Innerchr6:154895202..154898019hg19UCSC Ensembl
Innerchr6:154936894..154939711hg18UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg382818
hg192818
hg182818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969459
Supporting Variants
SamplesHGDP00778
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)nssv2426733
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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