A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962996



Internal ID18251552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6495818..6502811hg38UCSC Ensembl
Innerchr19:6495829..6502822hg19UCSC Ensembl
Innerchr19:6446829..6453822hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386994
hg196994
hg186994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2128895, nssv2128894, nssv2128893, nssv2128891, nssv2128889, nssv2128890, nssv2128896, nssv2128897, nssv2128888, nssv2128892
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTUBB4A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962996
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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