A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2407882



Internal ID17880113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:48211923..48214185hg38UCSC Ensembl
Innerchr6:48179659..48181921hg19UCSC Ensembl
Innerchr6:48287618..48289880hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382263
hg192263
hg182263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969398
Supporting Variants
SamplesHGDP01307
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)nssv2407882
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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