A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9432



Internal ID15500658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30222503..30225584hg38UCSC Ensembl
Outerchr16:30233824..30236905hg19UCSC Ensembl
Outerchr16:30141325..30144406hg18UCSC Ensembl
Outerchr16:30141325..30144406hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383082
hg193082
hg183082
hg173082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22900, nssv23448, nssv23100, nssv24243, nssv23922, nssv26121
SamplesNA19173, NA18972, NA19144, NA18563, NA18552, NA19007
Known GenesLOC613037
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9432
Frequency
Sample Size31
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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