A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9723



Internal ID15500949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39730828..39737074hg38UCSC Ensembl
Outerchr19:40221468..40227714hg19UCSC Ensembl
Outerchr19:44913308..44919554hg18UCSC Ensembl
Outerchr19:44913308..44919554hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg386247
hg196247
hg186247
hg176247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24434, nssv27534
SamplesNA07048, NA18517
Known GenesCLC
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)nsv9723
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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