A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975948



Internal ID18611155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:73919048..73924555hg38UCSC Ensembl
Innerchr11:73630093..73635600hg19UCSC Ensembl
Innerchr11:73307741..73313248hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg385508
hg195508
hg185508
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1894926, nssv1894923, nssv1894929, nssv1894921, nssv1894930, nssv1894922, nssv1894928, nssv1894925, nssv1894927, nssv1894924
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPAAF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975948
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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