A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965676



Internal ID18254220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3224204..3226178hg38UCSC Ensembl
Innerchr6:3224438..3226412hg19UCSC Ensembl
Innerchr6:3169437..3171411hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381975
hg191975
hg181975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2392282, nssv2392288, nssv2392285, nssv2392287, nssv2392281, nssv2392284, nssv2392280, nssv2392289, nssv2392286, nssv2392283
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTUBB2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965676
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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