A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946406



Internal ID18246570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154311761..154322262hg38UCSC Ensembl
Innerchr1:154284237..154294738hg19UCSC Ensembl
Innerchr1:152550861..152561362hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3810502
hg1910502
hg1810502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1800085, nssv1800083, nssv1800081, nssv1800088, nssv1800086, nssv1800090, nssv1800087, nssv1800089, nssv1800084, nssv1800082
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAQP10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946406
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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