A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976610



Internal ID18265130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49184154..49186788hg38UCSC Ensembl
Innerchr12:49577937..49580571hg19UCSC Ensembl
Innerchr12:47864204..47866838hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382635
hg192635
hg182635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1928481, nssv1928479, nssv1928484, nssv1928477, nssv1928478, nssv1928480, nssv1928482, nssv1928486, nssv1928483, nssv1928485
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTUBA1A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976610
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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