A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514919



Internal ID15813278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207573328..207576000hg38UCSC Ensembl
Innerchr1:207746673..207749345hg19UCSC Ensembl
Innerchr1:205813296..205815968hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382673
hg192673
hg182673
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2854903, nssv2854900, nssv2854896, nssv2854899, nssv2854906, nssv2854901, nssv2854904, nssv2854898, nssv2854897, nssv2854908, nssv2854909, nssv2854902, nssv2854907, nssv2854905
SamplesNA19141, NA12286, NA19107, NA19131, NA19123, NA11994, NA19239, NA21442, NA21366, NA12239, NA19225, NA19193, NA18594, NA19121
Known GenesCR1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514919
Frequency
Sample Size2366
Observed Gain12
Observed Loss2
Observed Complex0
Frequencyn/a


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