A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946434



Internal ID18593284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157767314..157768102hg38UCSC Ensembl
Innerchr1:157737104..157737892hg19UCSC Ensembl
Innerchr1:156003728..156004516hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38789
hg19789
hg18789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1802062, nssv1802069, nssv1802061, nssv1802070, nssv1802063, nssv1802064, nssv1802066, nssv1802065, nssv1802068, nssv1802067
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCRL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946434
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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