A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965722



Internal ID18600952
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2406741, nssv2406738, nssv2406743, nssv2406737, nssv2406745, nssv2406740, nssv2406742, nssv2406739, nssv2406736, nssv2406744
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMEP1A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965722
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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