A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2406743



Internal ID17844359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46830517..46848282hg38UCSC Ensembl
Innerchr6:46798254..46816019hg19UCSC Ensembl
Innerchr6:46906213..46923978hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3817766
hg1917766
hg1817766
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv965722
Supporting Variants
SamplesHGDP01029
Known GenesMEP1A
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)nssv2406743
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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