A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965675



Internal ID18254219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3154696..3158027hg38UCSC Ensembl
Innerchr6:3154930..3158261hg19UCSC Ensembl
Innerchr6:3099929..3103260hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg383332
hg193332
hg183332
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2391399, nssv2391392, nssv2391395, nssv2391396, nssv2391398, nssv2391397, nssv2391391, nssv2391393, nssv2391400, nssv2391394
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTUBB2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965675
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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