A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9742



Internal ID15500968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51684285..51718489hg38UCSC Ensembl
Outerchr19:52187538..52221742hg19UCSC Ensembl
Outerchr19:56879350..56913554hg18UCSC Ensembl
Outerchr19:56879350..56913554hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3834205
hg1934205
hg1834205
hg1734205
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24814, nssv27588, nssv28566, nssv27451, nssv25431
SamplesNA18502, NA19221, NA18552, NA19132, NA18980
Known GenesHAS1, MIR125A, MIR99B, MIRLET7E, SPACA6P, SPACA6P-AS
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)nsv9742
Frequency
Sample Size31
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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