A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514956



Internal ID15813315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:31060042..31061938hg38UCSC Ensembl
Innerchr21:32432361..32434257hg19UCSC Ensembl
Innerchr21:31354232..31356128hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381897
hg191897
hg181897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2861883, nssv2859601, nssv2866656, nssv2867986, nssv2863544, nssv2860767, nssv2868248, nssv2859224, nssv2862617, nssv2861170, nssv2865629
SamplesNA19192, NA19235, NA19200, NA19194, NA19202, NA19101, NA19095, NA19108, NA19147, NA19109, NA19148
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514956
Frequency
Sample Size2366
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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