A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514032



Internal ID15812586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196856007..196926935hg38UCSC Ensembl
Innerchr1:196825137..196896065hg19UCSC Ensembl
Innerchr1:195091760..195162688hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3870929
hg1970929
hg1870929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2855400, nssv2855408, nssv2855402, nssv2855398, nssv2855407, nssv2855406, nssv2855397, nssv2855403, nssv2855405, nssv2855401, nssv2855404, nssv2855399, nssv2855409
SamplesNA18870, NA18563, NA18489, NA19131, NA19130, NA18611, NA18956, NA18503, NA19151, NA19003, NA19256, NA19149, NA18872
Known GenesCFHR4
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514032
Frequency
Sample Size2366
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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