A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975996



Internal ID18611203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:127940411..127943072hg38UCSC Ensembl
Innerchr11:127810306..127812967hg19UCSC Ensembl
Innerchr11:127315516..127318177hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg382662
hg192662
hg182662
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1907947, nssv1907945, nssv1907950, nssv1907949, nssv1907948, nssv1907944, nssv1907951, nssv1907943, nssv1907946, nssv1907942
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975996
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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