A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514813



Internal ID15813172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72060568..72062256hg38UCSC Ensembl
Innerchr16:72094467..72096155hg19UCSC Ensembl
Innerchr16:70651968..70653656hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg381689
hg191689
hg181689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2824123, nssv2824103, nssv2824113, nssv2824140, nssv2824132, nssv2824100, nssv2824095, nssv2824105, nssv2824120, nssv2824099, nssv2824104, nssv2824136, nssv2824139, nssv2824111, nssv2824110, nssv2824098, nssv2824121, nssv2824106, nssv2824112, nssv2824094, nssv2824122, nssv2824119, nssv2824127, nssv2824108, nssv2824093, nssv2824124, nssv2824096, nssv2824133, nssv2824114, nssv2824107, nssv2824134, nssv2824116, nssv2824118, nssv2824128, nssv2824102, nssv2824129, nssv2824135, nssv2824117, nssv2824115, nssv2824109, nssv2824130, nssv2824125, nssv2824137, nssv2824097, nssv2824126, nssv2824101, nssv2824138, nssv2824131
SamplesNA18497, NA19222, NA19186, NA19249, NA18508, NA18504, NA18870, NA19192, NA18519, NA18860, NA19197, NA19199, NA19172, NA19159, NA19209, NA21387, NA19194, NA19175, NA19161, NA18859, NA19184, NA19103, NA18503, NA19221, NA19142, NA19181, NA18499, NA18856, NA19113, NA19099, NA19183, NA19115, NA19108, NA18517, NA19240, NA21615, NA19182, NA19109, NA19248, NA19223, NA19173, NA19102, NA18873, NA19096, NA21384, NA19121, NA19224, NA18522
Known GenesHP
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514813
Frequency
Sample Size2366
Observed Gain48
Observed Loss0
Observed Complex0
Frequencyn/a


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